Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.A65V
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H6PD

NM_004285.4:p.A65V

Associated Papers

Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort.

Akter H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

Tarnauskaitė Ž et al.

Human Mutation, 2019

31045292 (PubMed )
Supplement: HUMU-40-1063-s002.xlsx › Sheet1
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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."