Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.S1457fs
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PKD1

NM_001009944.3:p.S1457fs

Associated Papers

Copy number variant hotspots in Han Taiwanese population induced pluripotent stem cell lines - lessons from establishing the Taiwan human disease iPSC Consortium Bank.

Huang CY et al.

Journal of Biomedical Science, 2020

32887585 (PubMed )
Supplement: 12929_2020_682_MOESM2_ESM.xlsx › Table_S2

Generation of induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient with a p.Ser1457fs mutation in PKD1.

Huang CY et al.

Stem Cell Research, 2017

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
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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."