Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R2767C
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PKD1

NM_001009944.3:p.R2767C

Associated Papers

Polygenic risk alters the penetrance of monogenic kidney disease.

Khan A et al.

Nature Communications, 2023

38097619 (PubMed )
Supplement: 41467_2023_43878_MOESM4_ESM.xlsx › M1

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

Polygenic risk affects the penetrance of monogenic kidney disease.

Khan A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37214819 (PubMed )
Supplement: media-1.xlsx › M1

Intrafamilial Variability of ADPKD.

Lanktree MB et al.

Kidney International Reports, 2019

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-s5.xls › Sheet1

Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.

Hwang YH et al.

Journal of the American Society of Nephrology : Jasn, 2016

Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.

Audrézet MP et al.

Human Mutation, 2012

Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

Garcia-Gonzalez MA et al.

Molecular Genetics and Metabolism, 0

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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."