Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.D163G
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HEXA

NM_000520.6:p.D163G

Associated Papers

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations

Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.

Park JH et al.

Molecular Genetics & Genomic Medicine, 2021

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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."