Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.V1604M
Back to variants list

PKD1

NM_001009944.3:p.V1604M

Associated Papers

Novel PKD1 Mutations in Patients with Autosomal Dominant Polycystic Kidney Disease.

Kim H et al.

Laboratory Medicine, 2021

Molecular subtyping and genomic profiling expand precision medicine in refractory metastatic triple-negative breast cancer: the FUTURE trial.

Jiang YZ et al.

Cell Research, 2021

32719455 (PubMed )
Supplement: 41422_2020_375_MOESM12_ESM.xlsx › Sheet1

Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

Gao J et al.

International Journal of Molecular Sciences, 2020

32344918 (PubMed )
Supplement: ijms-21-03040-s001.zip › Supplementary_Data › Supplementary_Data_2.xlsx › S_Data_2

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

Pathogenicity analysis of novel variations in Chinese Han patients with polycystic kidney disease.

Fang Z et al.

Gene, 2017

Association of Rare Nonsynonymous Variants in PKD1 and PKD2 with Familial Intracranial Aneurysms in a Japanese Population.

Hirota K et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2016

Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.

Kinoshita M et al.

Plos One, 2016

27835667 (PubMed )
Supplement: pone.0166288.s005.xls › S3_Table

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

Liu B et al.

Scientific Reports, 2015

26632257 (PubMed )
Supplement: srep17468-s1.doc

Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.

Yu C et al.

Bmc Medical Genetics, 2011

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."