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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GBA1

Variant:p.V230V

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GBA1

NM_000157.4:p.V230V

hg38:chr1:155238205 C>T

Associated Papers

GBA1 variants in Brazilian Gaucher disease patients.

Basgalupp SP et al.

Molecular Genetics and Metabolism Reports, 2023

38053927 (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."