Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q777*
Back to variants list

PKD1

NM_001009944.3:p.Q777*

Associated Papers

Increased risk of kidney failure in patients with genetic kidney disorders.

Elliott MD et al.

The Journal of Clinical Investigation, 2024

39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2

A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Lindemann CH et al.

Kidney International Reports, 2023

36938073 (PubMed )
Supplement: mmc1.xlsx › Sheet1

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

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Mantovani V et al.

Frontiers in Genetics, 2020

32457805 (PubMed )
Supplement: Data_Sheet_1.PDF

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Trujillano D et al.

Molecular Genetics & Genomic Medicine, 2014

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."