Varaico: Literature-Extracted Genetic Variants

Gene:PLCE1
Variant:p.L1233P
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PLCE1

NM_016341.4:p.L1233P

Associated Papers

Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.

Watanabe A et al.

Kidney International Reports, 2024

Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.

Neves PD et al.

Kidney International, 2024

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
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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."