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Excess of RALGAPB de novo variants in neurodevelopmental disorders.
Shah AA, Zhang G, Li K, Liu C, Kanhar AA, Wang M, Quan Y, Wu H, Shen L, Khan R, Chen G, Ou J, Hu Z, Xia K, Guo H. Shah AA, et al. Among authors: wang m. Eur J Med Genet. 2020 Nov;63(11):104041. doi: 10.1016/j.ejmg.2020.104041. Epub 2020 Aug 24. Eur J Med Genet. 2020. PMID: 32853829
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
Ahmed A, Wang M, Bergant G, Maroofian R, Zhao R, Alfadhel M, Nashabat M, AlRifai MT, Eyaid W, Alswaid A, Beetz C, Qin Y, Zhu T, Tian Q, Xia L, Wu H, Shen L, Dong S, Yang X, Liu C, Ma L, Zhang Q, Khan R, Shah AA, Guo J, Tang B, Leonardis L, Writzl K, Peterlin B, Guo H, Malik S, Xia K, Hu Z. Ahmed A, et al. Among authors: wang m. Hum Genet. 2021 Apr;140(4):579-592. doi: 10.1007/s00439-020-02226-3. Epub 2020 Oct 13. Hum Genet. 2021. PMID: 33048237
SLC39A5 dysfunction impairs extracellular matrix synthesis in high myopia pathogenesis.
Dong S, Tian Q, Zhu T, Wang K, Lei G, Liu Y, Xiong H, Shen L, Wang M, Zhao R, Wu H, Li B, Zhang Q, Yao Y, Guo H, Xia K, Xia L, Hu Z. Dong S, et al. Among authors: wang k, wang m. J Cell Mol Med. 2021 Sep;25(17):8432-8441. doi: 10.1111/jcmm.16803. Epub 2021 Jul 24. J Cell Mol Med. 2021. PMID: 34302427 Free PMC article.
The autism risk gene CNTN4 modulates dendritic spine formation.
Zhao R, Zhu T, Liu Q, Tian Q, Wang M, Chen J, Tong D, Yu B, Guo H, Xia K, Qiu Z, Hu Z. Zhao R, et al. Among authors: wang m. Hum Mol Genet. 2021 Dec 27;31(2):207-218. doi: 10.1093/hmg/ddab233. Hum Mol Genet. 2021. PMID: 34415325
67,285 results
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