Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.G180V
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DOK7

NM_173660.5:p.G180V

Associated Papers

Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.

Theuriet J et al.

Brain : a Journal of Neurology, 2024

38696726 (PubMed )
Supplement: awae124_supplementary_data.pdf

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

When Breathing Becomes a Challenge: A Case of Congenital Myasthenia Gravis in an Indian Neonate With a DOK-7 Gene Mutation.

Mendpara V et al.

Cureus, 2023

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