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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMPCA

Variant:p.Y241S

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PMPCA

NM_015160.3:p.Y241S

hg38:chr9:136417039 A>C

Associated Papers

PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial Morphology.

Rambani V et al.

Neurology. Genetics, 2023

38235041 (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."