Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.P3652delFs
Back to variants list

PKHD1

NM_138694.4:p.P3652delFs

Associated Papers

All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.

Faas BHW et al.

Prenatal Diagnosis, 2023

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.

Gunay-Aygun M et al.

Molecular Genetics and Metabolism, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."