Varaico: Literature-Extracted Genetic Variants

Gene:PLCE1
Variant:p.N215Y
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PLCE1

NM_016341.4:p.N215Y

Associated Papers

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

Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas.

Zhang L et al.

Nature Genetics, 2014

24880341 (PubMed )
Supplement: NIHMS593687-supplement-2.xlsx › Supplementary_table_3

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."