Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.L1357L
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PKD1

NM_001009944.3:p.L1357L

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-s2.xlsx › Sheet1

Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease.

Stiburkova B et al.

The American Journal of the Medical Sciences, 2015

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1

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

Bataille S et al.

Bmc Nephrology, 2011

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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."