Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R1142_P1143delFs
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PKD1

NM_001009944.3:p.R1142_P1143delFs

Associated Papers

Fundamental insights into autosomal dominant polycystic kidney disease from human-based cell models.

Weydert C et al.

Pediatric Nephrology (berlin, Germany), 2019

Polycystin-1 but not polycystin-2 deficiency causes upregulation of the mTOR pathway and can be synergistically targeted with rapamycin and metformin.

Mekahli D et al.

Pflugers Archiv : European Journal of Physiology, 2014

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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."