Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.P1580S
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PKHD1

NM_138694.4:p.P1580S

Associated Papers

Phenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature.

Henein M et al.

Nephron, 2024

Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.

Ajiri R et al.

Kidney International Reports, 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."