Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.D123G
Back to variants list

SOX2

NM_003106.4:p.D123G

Associated Papers

Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.

Underwood A et al.

Genes, 2023

A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.

Takagi M et al.

Hormone Research in Paediatrics, 2014

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.

Gerth-Kahlert C et al.

Molecular Genetics & Genomic Medicine, 2013

Novel SOX2 partner-factor domain mutation in a four-generation family.

Mihelec M et al.

European Journal of Human Genetics : Ejhg, 2009

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."