Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.G466R
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PKHD1

NM_138694.4:p.G466R

Associated Papers

Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.

Fujimaru T et al.

Kidney International Reports, 2024

39291187 (PubMed )
Supplement: mmc1.pdf

Complications and prognosis of patients diagnosed with autosomal recessive polycystic kidney disease in neonatal period.

Inoki Y et al.

Cen Case Reports, 2024

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

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.

Schönauer R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32398770 (PubMed )
Supplement: 41436_2020_816_MOESM1_ESM.docx

Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease.

Fujimaru T et al.

Clinical Genetics, 2018

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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."