Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.V2217_A2222del0
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PKD1

NM_001009944.3:p.V2217_A2222del0

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

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

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

Rossetti S et al.

Journal of the American Society of Nephrology : Jasn, 2007

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