Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.R3637C
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PKHD1

NM_138694.4:p.R3637C

Associated Papers

The VUS Challenge in Cystic Kidney Disease: A Case-Based Review.

Aklilu AM et al.

Kidney360, 2024

Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).

Adeva M et al.

Medicine, 2006

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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."