Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.P347fs
Back to variants list

SOX10

NM_006941.4:p.P347fs

Associated Papers

Reproductive Phenotypes and Genotypes in Men With IHH.

Dwyer AA et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.

Dwyer AA et al.

Frontiers in Endocrinology, 2022

36407308 (PubMed )
Supplement: Table_1.docx

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."