Varaico: Literature-Extracted Genetic Variants

Gene:PCMTD1
Variant:p.R72H
Back to variants list

PCMTD1

NM_001286783.2:p.R72H

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 › 18R10493.xls › SNVIndel

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

Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism.

Bae J et al.

Endocrinology and Metabolism (seoul, Korea), 2018

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_2_late_met_4

BRAF V600E mutation in early-stage multiple myeloma: good response to broad acting drugs and no relation to prognosis.

Rustad EH et al.

Blood Cancer Journal, 2015

25794135 (PubMed )
Supplement: bcj201524x1.xls › Sheet1

Nicotine and oxidative stress induced exomic variations are concordant and overrepresented in cancer-associated genes.

Bavarva JH et al.

Oncotarget, 2014

24947164 (PubMed )
Supplement: oncotarget-05-4788-s001.pdf

Ocular Biometry and Genomic Association in Primary Angle Closure Disease. A Descriptive study.

Suneel S et al.

Romanian Journal of Ophthalmology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."