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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GALNS

Variant:p.A322V

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GALNS

NM_000512.5:p.A322V

hg38:chr16:88832035 G>A

Associated Papers

A Novel Missense Mutation of c.965C>T (p.Ala322Val) in the Human GALNS Gene Results in Severe Mucopolysaccharidosis Type IVA.

Safavi M et al.

Iranian Journal of Pathology, 2025

40060235 (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."