Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.A124P
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SOX9

NM_000346.4:p.A124P

Associated Papers

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

Underwood A et al.

Genes, 2023

Diagnostic yield of genetic testing in 324 infants with hypotonia.

Sharma S et al.

Clinical Genetics, 2021

Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: an in vitro model to study chondrodysplasias.

Benoist-Lasselin C et al.

Febs Letters, 2007

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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."