Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.C190*
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SOX10

NM_006941.4:p.C190*

Associated Papers

Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.

Mutai H et al.

Orphanet Journal of Rare Diseases, 2022

A clinical and genetic study of 16 Japanese families with Waardenburg syndrome.

Minami SB et al.

Gene, 2019

Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.

Potterf SB et al.

Human Genetics, 2000

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.

Tropitzsch A et al.

Ear and Hearing, 0

34753855 (PubMed )
Supplement: aud-43-1049-s003.xlsx › variant_1

Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss.

Tropitzsch A et al.

Ear and Hearing, 0

37438890 (PubMed )
Supplement: aud-44-1464-s001.pdf
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