Varaico: Literature-Extracted Genetic Variants

Gene:PLCE1
Variant:p.R321*
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PLCE1

NM_016341.4:p.R321*

Associated Papers

[PLCE1 mutation-induced end-stage renal disease presenting with massive proteinuria: a family analysis and literature review].

Abasi R et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2025

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2024

39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM4_ESM.xlsx › Sheet1

Exome-First Strategy in Adult Patients With CKD: A Cohort Study.

Doreille A et al.

Kidney International Reports, 2023

36938085 (PubMed )
Supplement: mmc2.xlsx › Liste_VUS

A no-nonsense approach to hereditary kidney disease.

Tokhmafshan F et al.

Pediatric Nephrology (berlin, Germany), 2020

Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.

Kari JA et al.

Pediatric Nephrology (berlin, Germany), 2014

[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

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

McCarthy HJ et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2013

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

Boyer O et al.

Journal of Medical Genetics, 2010

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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."