Varaico: Literature-Extracted Genetic Variants

Gene:PLCE1
Variant:p.R1246*
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PLCE1

NM_016341.4:p.R1246*

Associated Papers

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

Sadowski CE et al.

Journal of the American Society of Nephrology : Jasn, 2015

[Relationship between rs2274223 and rs3765524 polymorphisms of PLCE1 and risk of esophageal squamous cell carcinoma in a Kazakh Chinese population].

Chen YZ et al.

Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 2013

Multiple polymorphisms within the PLCE1 are associated with esophageal cancer via promoting the gene expression in a Chinese Kazakh population.

Cui XB et al.

Gene, 2013

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.

Boyer O et al.

Journal of Medical Genetics, 2010

Genetic forms of nephrotic syndrome: a single-center experience in Brussels.

Ismaili K et al.

Pediatric Nephrology (berlin, Germany), 2009

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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."