Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R1340W
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PKD1

NM_001009944.3:p.R1340W

Associated Papers

Identification of NCAN as a candidate gene for developmental dyslexia.

Einarsdottir E et al.

Scientific Reports, 2017

28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM4_ESM.xls › 3821-rare_exonic_variants

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-s2.xlsx › Sheet1

High Resolution Melt analysis for mutation screening in PKD1 and PKD2.

Bataille S et al.

Bmc Nephrology, 2011

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

Rossetti S et al.

Journal of the American Society of Nephrology : Jasn, 2007

A complete mutation screen of the ADPKD genes by DHPLC.

Rossetti S et al.

Kidney International, 2002

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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."