1 | SIPA1L3
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| A 16.7 kb deletion in Sipa1l3 is associated with juvenile cataract in mice.
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| Walker LR, Tosky ER, Sutton KM, Griess R, Abebe MD, Barnes SY, Cunnigham T, Kachman SD, Nielsen MK, Ciobanu DC.
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| Mamm Genome 28(11-12):515-519. doi: 10.1007/s00335-017-9720-9. Epub 2017 Sep 26.
2017
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2 | EPHA4, SIPA1L3
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| An Epha4/Sipa1l3/Wnt pathway regulates eye development and lens maturation.
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| Rothe M, Kanwal N, Dietmann P, Seigfried FA, Hempel A, Schütz D, Reim D, Engels R, Linnemann A, Schmeisser MJ, Bockmann J, Kühl M, Boeckers TM, Kühl SJ.
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| Development 144(2):321-333. doi: 10.1242/dev.147462. Epub 2016 Dec 19.
2017
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3 | LZTS3, SIPA1L3
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| Sipa1l3/SPAR3 is targeted to postsynaptic specializations and interacts with the Fezzin ProSAPiP1/Lzts3.
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| Dolnik A, Kanwal N, Mackert S, Halbedl S, Proepper C, Bockmann J, Schoen M, Boeckers TM, Kühl SJ, Schmeisser MJ.
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| J Neurochem 136(1):28-35. doi: 10.1111/jnc.13353. Epub 2015 Oct 8.
2016
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4 | ARCC9, SIPA1L3
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| Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.
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| Greenlees R, Mihelec M, Yousoof S, Speidel D, Wu SK, Rinkwitz S, Prokudin I, Perveen R, Cheng A, Ma A, Nash B, Gillespie R, Loebel DA, Clayton-Smith J, Lloyd IC, Grigg JR, Tam PP, Yap AS, Becker TS, Black GC, Semina E, Jamieson RV.
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| Hum Mol Genet 24(20):5789-804. doi: 10.1093/hmg/ddv298. Epub 2015 Jul 30.
2015
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5 | ARCC9, SIPA1L3
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| SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
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| Evers C, Paramasivam N, Hinderhofer K, Fischer C, Granzow M, Schmidt-Bacher A, Eils R, Steinbeisser H, Schlesner M, Moog U.
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| Eur J Hum Genet 23(12):1627-33. doi: 10.1038/ejhg.2015.46. Epub 2015 Mar 25.
2015
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