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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMPCA

Variant:p.R470C

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PMPCA

NM_015160.3:p.R470C

hg38:chr9:136421976 C>T

Associated Papers

Genetic susceptibility to optic neuropathy in patients with alcohol use disorder.

Delibes C et al.

Journal of Translational Medicine, 2024

38796496 (PubMed )

Supplement: 12967_2024_5334_MOESM1_ESM.pdf

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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."