| 1 | CPT1A, PDCD1, PNPLA2
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| PD-1 alters T-cell metabolic reprogramming by inhibiting glycolysis and promoting lipolysis and fatty acid oxidation.
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| Patsoukis N, Bardhan K, Chatterjee P, Sari D, Liu B, Bell LN, Karoly ED, Freeman GJ, Petkova V, Seth P, Li L, Boussiotis VA.
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| Nat Commun 6:6692. doi: 10.1038/ncomms7692.
2015
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| 2 | CIDEC, PNPLA2
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| Fat-specific protein 27 (FSP27) interacts with adipose triglyceride lipase (ATGL) to regulate lipolysis and insulin sensitivity in human adipocytes.
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| Grahn TH, Kaur R, Yin J, Schweiger M, Sharma VM, Lee MJ, Ido Y, Smas CM, Zechner R, Lass A, Puri V.
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| J Biol Chem 289(17):12029-39. doi: 10.1074/jbc.M113.539890. Epub 2014 Mar 13.
2014
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| 3 | NLSDM, PNPLA2
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| Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.
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| Fiorillo C, Brisca G, Cassandrini D, Scapolan S, Astrea G, Valle M, Scuderi F, Trucco F, Natali A, Magnano G, Gazzerro E, Minetti C, Arca M, Santorelli FM, Bruno C.
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| Biochem Biophys Res Commun 430(1):241-4. doi: 10.1016/j.bbrc.2012.10.127. Epub 2012 Nov 9.
2013
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| 4 | PNPLA2
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| Myocardial ATGL overexpression decreases the reliance on fatty acid oxidation and protects against pressure overload-induced cardiac dysfunction.
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| Kienesberger PC, Pulinilkunnil T, Sung MM, Nagendran J, Haemmerle G, Kershaw EE, Young ME, Light PE, Oudit GY, Zechner R, Dyck JR.
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| Mol Cell Biol 32(4):740-50. Epub 2011 Dec 12.
2012
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| 5 | NLSDM, PNPLA2
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| Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.
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| Lin P, Li W, Wen B, Zhao Y, Fenster DS, Wang Y, Gong Y, Yan C.
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| J Hum Genet 57(10):679-81. doi: 10.1038/jhg.2012.84. Epub 2012 Jul 26.
2012
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| 6 | NLSDM, PNPLA2
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| Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.
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| Tavian D, Missaglia S, Redaelli C, Pennisi EM, Invernici G, Wessalowski R, Maiwald R, Arca M, Coleman RA.
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| Hum Mol Genet 21(24):5318-28. doi: 10.1093/hmg/dds388. Epub 2012 Sep 17.
2012
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| 7 | GBF1, PNPLA2
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| Interaction between the triglyceride lipase ATGL and the Arf1 activator GBF1.
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| Ellong EN, Soni KG, Bui QT, Sougrat R, Golinelli-Cohen MP, Jackson CL.
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| PLoS One 6(7):e21889. Epub 2011 Jul 18.
2011
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| 8 | PNPLA2
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| SIRT1 controls lipolysis in adipocytes via FOXO1-mediated expression of ATGL.
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| Chakrabarti P, English T, Karki S, Qiang L, Tao R, Kim J, Luo Z, Farmer SR, Kandror KV.
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| J Lipid Res 52(9):1693-701. Epub 2011 Jul 8.
2011
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| 9 | LIPE, PNPLA2
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| Adipose triglyceride lipase contributes to cancer-associated cachexia.
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| Das SK, Eder S, Schauer S, Diwoky C, Temmel H, Guertl B, Gorkiewicz G, Tamilarasan KP, Kumari P, Trauner M, Zimmermann R, Vesely P, Haemmerle G, Zechner R, Hoefler G.
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| Science 333(6039):233-8. Epub 2011 Jun 16. Erratum in: Science. 2011 Sep 16;333(6049):1576.
2011
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| 10 | PNPLA2
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| Desnutrin/ATGL is regulated by AMPK and is required for a brown adipose phenotype.
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| Ahmadian M, Abbott MJ, Tang T, Hudak CS, Kim Y, Bruss M, Hellerstein MK, Lee HY, Samuel VT, Shulman GI, Wang Y, Duncan RE, Kang C, Sul HS.
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| Cell Metab 13(6):739-48.
2011
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| 11 | NLSDM, PNPLA2
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| The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
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| Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H.
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| J Neurol 258(11):1987-97. Epub 2011 May 5.
2011
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| 12 | LIPE, PNPLA2
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| Altered skeletal muscle lipase expression and activity contribute to insulin resistance in humans.
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| Badin PM, Louche K, Mairal A, Liebisch G, Schmitz G, Rustan AC, Smith SR, Langin D, Moro C.
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| Diabetes 60(6):1734-42. Epub 2011 Apr 15.
2011
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| 13 | PLIN1, PLIN5, PNPLA2
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| Interactions of perilipin-5 (Plin5) with adipose triglyceride lipase.
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| Granneman JG, Moore HP, Mottillo EP, Zhu Z, Zhou L.
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| J Biol Chem 286(7):5126-35. doi: 10.1074/jbc.M110.180711. Epub 2010 Dec 8.
2011
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| 14 | NLSDM, PNPLA2
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| A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles.
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| Chen J, Hong D, Wang Z, Yuan Y.
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| Clin Neuropathol 29(6):351-6.
2010
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| 15 | PNPLA2
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| Pigment epithelium-derived factor receptor (PEDF-R): a plasma membrane-linked phospholipase with PEDF binding affinity.
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| Subramanian P, Notario PM, Becerra SP.
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| Adv Exp Med Biol 664:29-37.
2010
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| 16 | PNPLA2
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| Adipose triglyceride lipase plays a key role in the supply of the working muscle with fatty acids.
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| Schoiswohl G, Schweiger M, Schreiber R, Gorkiewicz G, Preiss-Landl K, Taschler U, Zierler KA, Radner FP, Eichmann TO, Kienesberger PC, Eder S, Lass A, Haemmerle G, Alsted TJ, Kiens B, Hoefler G, Zechner R, Zimmermann R.
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| J Lipid Res 51(3):490-9. Epub 2009 Nov 25.
2010
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| 17 | PNPLA2
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| Characterization of desnutrin functional domains: critical residues for triacylglycerol hydrolysis in cultured cells.
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| Duncan RE, Wang Y, Ahmadian M, Lu J, Sarkadi-Nagy E, Sul HS.
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| J Lipid Res 51(2):309-17. Epub 2009 Aug 19.
2010
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| 18 | PNPLA2
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| Adipose triglyceride lipase deficiency causes tissue-specific changes in insulin signaling.
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| Kienesberger PC, Lee D, Pulinilkunnil T, Brenner DS, Cai L, Magnes C, Koefeler HC, Streith IE, Rechberger GN, Haemmerle G, Flier JS, Zechner R, Kim YB, Kershaw EE.
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| J Biol Chem 284(44):30218-29. Epub 2009 Aug 31.
2009
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| 19 | LIPE, PNPLA2
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| Contribution of adipose triglyceride lipase and hormone-sensitive lipase to lipolysis in hMADS adipocytes.
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| Bezaire V, Mairal A, Ribet C, Lefort C, Girousse A, Jocken J, Laurencikiene J, Anesia R, Rodriguez AM, Ryden M, Stenson BM, Dani C, Ailhaud G, Arner P, Langin D.
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| J Biol Chem 284(27):18282-91. Epub 2009 May 11.
2009
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| 20 | FOXO1, PNPLA2
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| FoxO1 controls insulin-dependent adipose triglyceride lipase (ATGL) expression and lipolysis in adipocytes.
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| Chakrabarti P, Kandror KV.
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| J Biol Chem 284(20):13296-300. Epub 2009 Mar 17.
2009
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| 21 | NLSDM, PNPLA2
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| Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy.
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| Campagna F, Nanni L, Quagliarini F, Pennisi E, Michailidis C, Pierelli F, Bruno C, Casali C, DiMauro S, Arca M.
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| Biochem Biophys Res Commun 377(3):843-6. Epub 2008 Oct 24.
2008
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| 22 | PLA2G6, PNPLA1, PNPLA2, PNPLA3, PNPLA4, PNPLA5, PNPLA6, PNPLA7, PNPLA8
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| Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions.
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| Kienesberger PC, Oberer M, Lass A, Zechner R.
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| J Lipid Res Lipid Res. 2008 Nov 23. [Epub ahead of print] 2008
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| 23 | PNPLA2, NLSDM
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| The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.
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| Fischer J, Lefevre C, Morava E, Mussini JM, Laforet P, Negre-Salvayre A, Lathrop M, Salvayre R.
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| Nat Genet 39(1):28-30. Epub 2006 Dec 24. 2007
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| 24 | PNPLA1, PNPLA2, PNPLA3, PNPLA4, PNPLA5, PNPLA6, PNPLA7, PNPLA8
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| Characterization of the human patatin-like phospholipase family.
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| Wilson PA, Gardner SD, Lambie NM, Commans SA, Crowther DJ.
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| J Lipid Res 47(9):1940-9. Epub 2006 Jun 25. 2006
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| 25 | PNPLA2, PNPLA3, PNPLA4
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| Expression, regulation, and triglyceride hydrolase activity of Adiponutrin family members.
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| Lake AC, Sun Y, Li JL, Kim JE, Johnson JW, Li D, Revett T, Shih HH, Liu W, Paulsen JE, Gimeno RE.
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| J Lipid Res 46(11):2477-87. Epub 2005 Sep 8.
2005
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| 26 | PNPLA2
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| Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase.
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| Zimmermann R, Strauss JG, Haemmerle G, Schoiswohl G, Birner-Gruenberger R, Riederer M, Lass A, Neuberger G, Eisenhaber F, Hermetter A, Zechner R.
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| Science 306(5700):1383-6. 2004
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| 27 | PNPLA2
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| Desnutrin, an adipocyte gene encoding a novel patatin domain-containing protein, is induced by fasting and glucocorticoids: ectopic expression of desnutrin increases triglyceride hydrolysis.
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| Villena JA, Roy S, Sarkadi-Nagy E, Kim KH, Sul HS.
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| J Biol Chem 279(45):47066-75. Epub 2004 Aug 27. 2004
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| 28 | ADIPOQ, PLA2G6, PNPLA2, PNPLA3, PNPLA4
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| Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities.
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| Jenkins CM, Mancuso DJ, Yan W, Sims HF, Gibson B, Gross RW.
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| J Biol Chem 279(47):48968-75. Epub 2004 Sep 10. 2004
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| 29 | ABCB6, ADCK2, ANAPC7, ANKRD46, ASPHD1, AVPI1, AZIN1, BRINP2, C12orf24, C14orf79, C17orf90, C17orf91, C5orf15, C9orf127, C9orf25, C9orf82, CNIH3, COG3, COG7, CREB3L1, CSRNP2, DHX29, DHX57, DLAT, EIF2B2, ERI3, FAM13C1, FAM35A, FAM54B, FLAD1, GHITM, GRIP2, GRPEL1, HMGCLL1, IP6K2, IP6K2, ITGB1BP1, KCMF1, KIFC2, LRP10, MDM1, MFN1, NAPG, NCALD, NECAB2, NIPAL4, NPTN, NTNG2, PASK, PCDHB10, PDIA6, PHPT1, PI4K2A, PNPLA2, POGK, PTOV1, RNF13, RNF41, SAC3D1, SDCBP2, SELT, SLC38A6, SLC39A3, SMURF1, SPRED2, SUCLG2, TMCO1, TMEM183A, TP53I11, TRPC4AP, TSC22D3, TUBB, TXNDC12, UTP18, WDR40A, WDR77, WSB2, ZMIZ1
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| Large-scale concatenation cDNA sequencing.
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| Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY,Wentland MA, Lennon G, Gibbs RA.
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| Genome Res 7(4):353-8. 1997
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| 30 | ADCK2, ANAPC7, ARHGAP22, AVPI1, AZIN1, C12orf24, C14orf79, C5orf15, C9orf25, CNIH3, COG3, COG7, CREB3L1, DHX29, DHX57, DLAT, DLGAP3, EIF2B2, EXOC3, FAM13C1, FAM152B, FAM35A, FAM54B, FAM89B, FLAD1, GHITM, GRPEL1, HMGCLL1, IP6K2, IPO4, ITGB1BP1, KCMF1, KIFC2, LRP10, MDM1, MFN1, NAPG, NCALD, NECAB2, NPTN, NTNG2, PASK, PCDHB10, PHPT1, PI4K2A, PNPLA2, POGK, PTOV1, RNF41, SAC3D1, SDCBP2, SELT, SEMA6C, SLC38A6, SLC39A3, SMURF1, SPRED2, STX12, SUCLG2, TAX1BP3, TMEM183A, TP53I11, TRAPPC3, TRPC4AP, TSC22D3, TUBB, TXNDC12, UTP18, WDFY3, WDR40A, WDR77, WSB2, ZMIZ1, ZNF410, ZXDC
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| A double adaptor method for improved shotgun library construction.
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| Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA.
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| Anal Biochem 236(1):107-13. 1996
|