Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q2142delFs
Back to variants list

PKD1

NM_001009944.3:p.Q2142delFs

Associated Papers

Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.

Sierks D et al.

Jhep Reports : Innovation in Hepatology, 2022

36246085 (PubMed )
Supplement: mmc1.pdf

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
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."