Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.S250T
Back to variants list

SOX2

NM_003106.4:p.S250T

Associated Papers

Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.

Cassin J et al.

Jci Insight, 2023

36602867 (PubMed )
Supplement: jciinsight-8-164324-s033.pdf

Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.

Patil VA et al.

Clinical Endocrinology, 2022

36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients.

Stamou MI et al.

Endocrine Connections, 2019

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."