Varaico: Literature-Extracted Genetic Variants

Gene:PCMTD1
Variant:p.R252*
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PCMTD1

NM_052937.4:p.R252*

Associated Papers

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10487.xls › SNVIndel

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.

Albarry MA et al.

Plos One, 2021

33571247 (PubMed )
Supplement: pone.0246607.s001.xlsx › Sheet1

Multiplatform Molecular Profiling Reveals Epigenomic Intratumor Heterogeneity in Ependymoma.

Liu SJ et al.

Cell Reports, 2020

32023450 (PubMed )
Supplement: NIHMS1568952-supplement-2.xls › WES_somatic_variants

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_1_early_met_1
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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."