Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.P1484P
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PKD1

NM_001009944.3:p.P1484P

Associated Papers

Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease.

Edrees BM et al.

Gene, 2016

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

Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.

Tan AY et al.

The Journal of Molecular Diagnostics : Jmd, 2014

Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

Tan YC et al.

Human Mutation, 2009

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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."