Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.G457D
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SOX9

NM_000346.4:p.G457D

Associated Papers

In silico functional, structural, and pathogenicity assessment of single nucleotide polymorphisms in the human SOX9 gene.

Shadhin MST et al.

Scientific Reports, 2025

Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases.

Liu Y et al.

Diagnostic Pathology, 2019

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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."