Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.S2235L
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PKD1

NM_001009944.3:p.S2235L

Associated Papers

Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations.

Kataoka H et al.

Journal of Clinical Medicine, 2020

31948117 (PubMed )
Supplement: jcm-09-00146-s001.pdf

Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

He WB et al.

Bmc Medical Genetics, 2018

Identification of MMP1 as a novel risk factor for intracranial aneurysms in ADPKD using iPSC models.

Ameku T et al.

Scientific Reports, 2016

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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."