Varaico: Literature-Extracted Genetic Variants

Gene:PLCE1
Variant:p.R548L
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PLCE1

NM_016341.4:p.R548L

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management.

Mitrotti A et al.

International Journal of Molecular Sciences, 2024

Genome-wide association study of esophageal squamous cell cancer identifies shared and distinct risk variants in African and Chinese populations.

Chen WC et al.

American Journal of Human Genetics, 2023

Association of genetic variants in CHEK2 with oesophageal squamous cell carcinoma in the South African Black population.

Chen WC et al.

Carcinogenesis, 2019

The Role of p.Ser1105Ser (in NPHS1 Gene) and p.Arg548Leu (in PLCE1 Gene) with Disease Status of Vietnamese Patients with Congenital Nephrotic Syndrome: Benign or Pathogenic?

Thi Kim Lien N et al.

Medicina (kaunas, Lithuania), 2019

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.

Justice AE et al.

Nature Genetics, 2019

30778226 (PubMed )
Supplement: NIHMS1016010-supplement-SupplementaryData16.xlsx › SD16._Locus_Lookups

Plasticity of Drug-Naïve and Vemurafenib- or Trametinib-Resistant Melanoma Cells in Execution of Differentiation/Pigmentation Program.

Czyz M et al.

Journal of Oncology, 2019

31354817 (PubMed )
Supplement: 1697913.f1.pdf

Systematic Review of Genetic Factors in the Etiology of Esophageal Squamous Cell Carcinoma in African Populations.

Simba H et al.

Frontiers in Genetics, 2019

Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression.

Giglio S et al.

Journal of the American Society of Nephrology : Jasn, 2015

Distinct genetic association at the PLCE1 locus with oesophageal squamous cell carcinoma in the South African population.

Bye H et al.

Carcinogenesis, 2012

Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS.

Gbadegesin R 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."