Varaico: Literature-Extracted Genetic Variants

Gene:PMPCA
Variant:p.R185W
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PMPCA

NM_015160.3:p.R185W

Associated Papers

Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in the PMPCA Gene causing Autosomal Recessive Spinocerebellar Ataxia.

Bagabir HA et al.

Pakistan Journal of Medical Sciences, 2024

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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."