Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.S3238Splc
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PKD1

NM_001009944.3:p.S3238Splc

Associated Papers

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

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-s8.xlsx › Sheet1

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
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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."