Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.D3439Y
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PKHD1

NM_138694.4:p.D3439Y

Associated Papers

Association of congenital hepatic fibrosis and Caroli's syndrome: Two illustrative cases.

Wang M et al.

Clinics and Research in Hepatology and Gastroenterology, 2024

Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.

Liu JL et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022

36549658 (PubMed )
Supplement: gfac338_supplemental_file.pdf

Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chinese Children with ARPKD: A Retrospective Single Center Cohort Study and Literature Review.

Qiu LR et al.

Current Medical Science, 2020

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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."