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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GEMIN5

Variant:p.P512L

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GEMIN5

NM_015465.5:p.P512L

hg38:chr5:154920031 G>A

Associated Papers

CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia.

Delle Vedove A et al.

Cellular and Molecular Life Sciences : Cmls, 2022

36136249 (PubMed )

Supplement: 18_2022_4544_MOESM1_ESM.docx

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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."