Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.E359_T360delFs
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SOX10

NM_006941.4:p.E359_T360delFs

Associated Papers

Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.

Ma J et al.

International Journal of Pediatric Otorhinolaryngology, 2016

Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.

Fernández RM et al.

American Journal of Medical Genetics. Part A, 2014

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

Viñuela A et al.

American Journal of Medical Genetics. Part A, 2009

Longitudinal profiling of IDH-mutant astrocytomas reveals acquired RAS-MAPK pathway mutations associated with inferior survival.

Rodriguez Almaraz E et al.

Neuro-oncology Advances, 0

40051658 (PubMed )
Supplement: vdaf024_suppl_supplementary_tables_s1-s4.xlsx › Table_S2
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