Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.L1315R
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PKHD1

NM_138694.4:p.L1315R

Associated Papers

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.

Watson D et al.

American Journal of Medical Genetics. Part A, 2025

Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.

Ishiko S et al.

Clinical and Experimental Nephrology, 2022

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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."