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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKD1

Variant:p.E2148delFs

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PKD1

NM_001009944.3:p.E2148delFs

hg38:chr16:2108724 TC>T

Associated Papers

Pathogenicity analysis of novel variations in Chinese Han patients with polycystic kidney disease.

Fang Z et al.

Gene, 2017

28578020 (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."