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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC20A2

Variant:p.V624E

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SLC20A2

NM_001257180.2:p.V624E

hg38:chr8:42417891 A>T

Associated Papers

Computational molecular characterization of a novel SLC20A2 variant associated with primary familial brain calcification.

Lan SC et al.

Scientific Reports, 2025

40437060 (PubMed )

Expanding the phenotype associated with biallelic SLC20A2 variants.

D'Onofrio G et al.

European Journal of Human Genetics : Ejhg, 2023

36977836 (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."