Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.S3113delFs
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PKHD1

NM_138694.4:p.S3113delFs

Associated Papers

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.

Nicolaou N et al.

Kidney International, 2016

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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."