Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.R211C
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IHH

NM_002181.4:p.R211C

Associated Papers

Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype.

Nair P et al.

Molecular Syndromology, 2025

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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."