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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PVR

Variant:p.L19delFs

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PVR

NM_006505.5:p.L19delFs

hg38:chr19:44644150 GC>G

Associated Papers

MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants.

Samanta A et al.

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2023

36753038 (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."