Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q2165*
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PKD1

NM_001009944.3:p.Q2165*

Associated Papers

Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis.

Aypek H et al.

Renal Failure, 2025

41032671 (PubMed )
Supplement: IRNF_A_2547306_SM0962.docx

Genetic diagnosis and prenatal diagnosis of patients with cystic kidney disease in Southwest China.

Zhou C et al.

Bmc Nephrology, 2025

Characterization of Monogenic Kidney Disease in Older Patients With CKD.

Elhassan EAE et al.

Kidney International Reports, 2025

40677324 (PubMed )
Supplement: mmc1.pdf

Familial Variability of Disease Severity in Adult Patients With ADPKD.

Elhassan EAE et al.

Kidney International Reports, 2024

38481516 (PubMed )
Supplement: mmc1.pdf

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

Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing.

Zhang Z et al.

Journal of the American Society of Nephrology : Jasn, 2021

The genetic landscape of polycystic kidney disease in Ireland.

Benson KA et al.

European Journal of Human Genetics : Ejhg, 2021

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Carrera P et al.

Scientific Reports, 2016

27499327 (PubMed )
Supplement: srep30850-s4.xlsx › Sheet1
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