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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKD1

Variant:p.R2163Q

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PKD1

NM_001009944.3:p.R2163Q

hg38:chr16:2108679 C>T

Associated Papers

Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.

Borràs DM et al.

Human Mutation, 2017

28378423 (PubMed )

Supplement: HUMU-38-870-s001.pdf

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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."