Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.R107G
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SOX9

NM_000346.4:p.R107G

Associated Papers

Novel SOX9 Gene Variant Associated with Campomelic Dysplasia: Effects on Sex Phenotypes.

Marzuki NS et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.

Kim YM et al.

Clinical Genetics, 2017

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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."