Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.H703H
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PKD1

NM_001009944.3:p.H703H

Associated Papers

Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.

Borràs DM et al.

Human Mutation, 2017

28378423 (PubMed )
Supplement: HUMU-38-870-s001.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-s2.xlsx › Sheet1
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