Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.R261H
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SOX10

NM_006941.4:p.R261H

Associated Papers

Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults.

Corriols-Noval P et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2022

Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Florentine MM et al.

Human Genetics, 2022

34515852 (PubMed )
Supplement: 439_2021_2338_MOESM2_ESM.xlsx › All_variants

Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.

Rojas RA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33442024 (PubMed )
Supplement: NIHMS1658429-supplement-Supplementary_Table_1.xlsx › Supp_Table_1C_SOX10-gnomAD
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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."