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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GIGYF2

Variant:p.V1175Splc

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GIGYF2

NM_001103147.2:p.V1175Splc

hg38:chr2:232847339 G>A

Associated Papers

Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease.

Gambardella S et al.

Parkinson's Disease, 2018

30034773 (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."