Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.P486delFs
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DOK7

NM_173660.5:p.P486delFs

Associated Papers

DOK7 congenital myasthenic syndrome: case series and review of literature.

Ziaadini B et al.

Bmc Neurology, 2024

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.

Bevilacqua JA et al.

European Journal of Translational Myology, 2017

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