Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.R176T
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SOX10

NM_006941.4:p.R176T

Associated Papers

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.

Tomaselli PJ et al.

Neurology, 2017

28283593 (PubMed )
Supplement: supp_WNL.0000000000003819_Table_e-2.pdf

A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.

Murphy SM et al.

Journal of the Peripheral Nervous System : Jpns, 2011

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