Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.Y405F
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DOK7

NM_173660.5:p.Y405F

Associated Papers

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

Hamuro J et al.

The Journal of Biological Chemistry, 2008

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