Varaico: Literature-Extracted Genetic Variants

Gene:PCNT
Variant:p.R143H
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PCNT

NM_006031.6:p.R143H

Associated Papers

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.

Hsieh A et al.

Genome Medicine, 2020

32349777 (PubMed )
Supplement: 13073_2020_738_MOESM1_ESM.xlsx › Table_S3_All_EM-mosaic_Mosaics

A case report of multiple primary prostate tumors with differential drug sensitivity.

Wilkinson S et al.

Nature Communications, 2020

32054861 (PubMed )
Supplement: 41467_2020_14657_MOESM4_ESM.xlsx › Source_of_Supp_Table_3

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Singh R et al.

Plos One, 2020

32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS13

A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II).

Dehghan Tezerjani M et al.

Frontiers in Pediatrics, 2020

32671003 (PubMed )
Supplement: Table_1.xlsx › Sheet1

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › CHP212

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › a__Freq_TP094

MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.

Rinner B et al.

Scientific Reports, 2017

28522871 (PubMed )
Supplement: 41598_2017_2197_MOESM1_ESM.pdf

A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas.

Nikolaev SI et al.

Cancer Research, 2012

23204322 (PubMed )
Supplement: 00085472can123869-sup-stab_3_xls_457k_rev.xls › Suppl_Table_S3.csv
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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."