1 | ABHD16A, SPG85
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| ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies
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| Lemire G, Ito YA, Marshall AE, Chrestian N, Stanley V, Brady L, Tarnopolsky M, Curry CJ, Hartley T, Mears W, Derksen A, Rioux N, Laflamme N, Hutchison HT, Pais LS, Zaki MS, Sultan T, Dane AD; Care4Rare Canada Consortium, Gleeson JG, Vaz FM, Kernohan KD, Bernard G, Boycott KM.
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| Am J Hum Genet. Oct 7;108(10):2017-2023. doi: 10.1016/j.ajhg.2021.09.005. Epub 2021 Sep 28. 2021
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2 | ABHD16A, SPG85
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| Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia
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| Yahia A, Elsayed LEO, Valter R, Hamed AAA, Mohammed IN, Elseed MA, Salih MA, Esteves T, Auger N, Abubaker R, Koko M, Abozar F, Malik H, Adil R, Emad S, Musallam MA, Idris R, Eltazi IZM, Babai A, Ahmed EAA, Abd Allah ASI, Mairey M, Ahmed AKMA, Elbashir MI, Brice A, Ibrahim ME, Ahmed AE, Lamari F, Stevanin G.
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| Front Neurol. Aug 20;12:720201. doi: 10.3389/fneur.2021.720201. 2021
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3 | ABHD16A, IFITM3
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| Human Interferon Inducible Transmembrane Protein 3 (IFITM3) Inhibits Influenza Virus A Replication and Inflammation by Interacting with ABHD16A.
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| Chen L, Zhu L, Chen J
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| Biomed Res Int. Mar 3;2021:6652147. doi: 10.1155/2021/6652147. 2021
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4 | ABHD12, ABHD16A
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| Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC
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| Singh S, Joshi A, Kamat SS.
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| Biochemistry. Jun 23;59(24):2299-2311. doi: 10.1021/acs.biochem.0c00349. Epub 2020 Jun 3. 2020
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5 | ABHD16A
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| Sequence analysis and structure prediction of ABHD16A and the roles of the ABHD family members in human disease.
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| Xu J, Gu W, Ji K, Xu Z, Zhu H, Zheng W.
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| Open Biol. May;8(5):180017. doi: 10.1098/rsob.180017. 2018
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6 | ABHD16A
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| Biochemical and pharmacological characterization of the human lymphocyte antigen B-associated transcript 5 (BAT5/ABHD16A).
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| Savinainen JR, Patel JZ, Parkkari T, Navia-Paldanius D, Marjamaa JJ, Laitinen T, Nevalainen T, Laitinen JT.
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| PLoS One. Oct 7;9(10):e109869. doi: 10.1371/journal.pone.0109869. 2014
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7 | ABHD16A
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| Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region.
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| Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD, Sanderson CM.
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| Genomics 83(1):153-67. 2004
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8 | ABHD16A, BAG6, BAT2, BAT4, BAT@, D6S51, D6S52, D6S53, D6S81E, DDX39B, LTA, LTB, TNF
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| A new cluster of genes within the human major histocompatibility complex.
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| Spies T, Blanck G, Bresnahan M, Sands J, Strominger JL.
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| Science 243(4888):214-7. 1989
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9 | ABHD16A, BAG6, BAT2, BAT4, BAT@, DDX39B, EHMT2, ZBTB12
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| Human major histocompatibility complex contains a minimum of 19 genes between the complement cluster and HLA-B.
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| Spies T, Bresnahan M, Strominger JL.
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| Proc Natl Acad Sci U S A 86(22):8955-8. 1989
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