Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.Q195*
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SOX9

NM_000346.4:p.Q195*

Associated Papers

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.

Mattos EP et al.

Genetics and Molecular Biology, 2015

25983619 (PubMed )
Supplement: 1415-4757-gmb-38-1-14-suppl03.pdf

The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9].

Harley VR et al.

Endocrine Reviews, 2003

Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.

Bernard P et al.

Human Molecular Genetics, 2003

Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.

Meyer J et al.

Human Molecular Genetics, 1997

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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."