Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.R412H
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AHDC1

NM_001371928.1:p.R412H

Associated Papers

Double Mosaicism in Xia-Gibbs Syndrome.

Hu J et al.

American Journal of Medical Genetics. Part A, 2026

A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism.

D Hidalgo-Santos A et al.

International Journal of Endocrinology and Metabolism, 2018

30323850 (PubMed )
Supplement: ijem-16-03-67329-s001.pdf
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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."