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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKD1

Variant:p.C2178S

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PKD1

NM_001009944.3:p.C2178S

hg38:chr16:2108635 A>T

Associated Papers

Association of a novel PKHD1 mutation in a family with autosomal dominant polycystic liver disease.

Wang J et al.

Annals of Translational Medicine, 2021

33569422 (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."