Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.S1106fs
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AHDC1

NM_001371928.1:p.S1106fs

Associated Papers

Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome.

Cardoso-Dos-Santos AC et al.

Molecular Syndromology, 2020

Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.

Murdock DR et al.

Cold Spring Harbor Molecular Case Studies, 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."