Varaico: Literature-Extracted Genetic Variants

Gene:DOCK2
Variant:p.V923delFs
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DOCK2

NM_004946.3:p.V923delFs

Associated Papers

A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review.

Esmaeilzadeh E et al.

Molecular Genetics & Genomic Medicine, 2024

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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."