Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.V310insFs
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SOX10

NM_006941.4:p.V310insFs

Associated Papers

The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia.

Mollaaghababa R et al.

Oncogene, 2003

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

Touraine RL et al.

American Journal of Human Genetics, 2000

The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome.

Southard-Smith EM et al.

Genome Research, 1999

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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."