Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.D444_H445delFs
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SOX9

NM_000346.4:p.D444_H445delFs

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

Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.

Wada Y et al.

American Journal of Medical Genetics. Part A, 2009

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