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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VPS33A

Variant:p.R498P

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VPS33A

NM_022916.6:p.R498P

hg38:chr12:122232916 C>G

Associated Papers

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A.

Pavlova EV et al.

Human Mutation, 2022

36153662 (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."