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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRORP

Variant:p.Y247C

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PRORP

NM_014672.4:p.Y247C

hg38:chr14:35123985 A>G

Associated Papers

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.

Chatfield KC et al.

Mitochondrion, 2015

25575635 (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."