Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R2865W
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PKD1

NM_001009944.3:p.R2865W

Associated Papers

Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients.

Dev P et al.

Plos One, 2026

Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.

Saglia C et al.

Bmc Medical Genomics, 2023

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-s7.xls › Sheet1
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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."