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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PNPLA6

Variant:p.R1058C

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PNPLA6

NM_001166114.2:p.R1058C

hg38:chr19:7556531 C>T

Associated Papers

Two Cases of PNPLA6 -Associated Ataxia with Novel Mutations.

Nuzhnyi EP et al.

Neurology India, 2025

40534378 (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."