Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.G64W
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DOK7

NM_173660.5:p.G64W

Associated Papers

A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.

Zhang S et al.

Human Molecular Genetics, 2023

36579833 (PubMed )
Supplement: supplementary_table_s1_ddac306.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."