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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HEXA

Variant:p.Y427fs

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HEXA

NM_000520.6:p.Y427fs

hg38:chr15:72346576 A>AN

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (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."