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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AHDC1

Variant:p.F695_I698del4

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AHDC1

NM_001371928.1:p.F695_I698del4

hg38:chr1:27550021 CGATGCCCTCAAA>C

Associated Papers

Clinical and molecular profiles of patients with Xia-Gibbs syndrome: a cohort in Japan.

Shirai H et al.

Brain & Development, 2026

41653504 (PubMed )

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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."