Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.W1837*
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PKD1

NM_001009944.3:p.W1837*

Associated Papers

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Mantovani V et al.

Frontiers in Genetics, 2020

32457805 (PubMed )
Supplement: Data_Sheet_1.PDF

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-s4.xlsx › Sheet1

Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.

Rossetti S et al.

Lancet (london, England), 2003

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."