Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R3046C
Back to variants list

PKD1

NM_001009944.3:p.R3046C

Associated Papers

PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.

Kimura T et al.

Biomolecules, 2023

37509056 (PubMed )
Supplement: biomolecules-13-01020-s001.zip › biomolecules-2403734-supplementary_correct.xlsx › Table_S1

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Huang Y et al.

Frontiers in Genetics, 2023

36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1

A single-center analysis of genotype-phenotype characteristics of Chinese patients with autosomal dominant polycystic kidney disease by targeted exome sequencing.

Yan Z et al.

Frontiers in Genetics, 2022

36186434 (PubMed )
Supplement: Table1.XLSX › PKD1

Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism.

Lam WY et al.

Ebiomedicine, 2021

Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.

Wang T et al.

Molecular Genetics & Genomic Medicine, 2019

Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.

Xu D et al.

Kidney & Blood Pressure Research, 2018

Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.

Liu B et al.

Scientific Reports, 2015

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."