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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMPCA

Variant:p.M344I

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PMPCA

NM_015160.3:p.M344I

hg38:chr9:136418596 G>C

Associated Papers

Expanding the Phenotypic Variability of PMPCA-Related Ataxia.

Sanesteban-Beceiro E et al.

Movement Disorders Clinical Practice, 2024

38696267 (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."