Varaico: Literature-Extracted Genetic Variants

Gene:SNAPC4
Variant:p.S542del1
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SNAPC4

NM_003086.4:p.S542del1

Associated Papers

Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.

Moon CM et al.

Inflammatory Bowel Diseases, 2018

29733354 (PubMed )
Supplement: izy122_suppl_supporting_data.pdf

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 › c__Freq_TP092

Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Oegema R et al.

Plos Genetics, 2017

28542170 (PubMed )
Supplement: pgen.1006809.s013.xlsx › WGS_-_list_of_variants

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Bakhchane A et al.

Plos One, 2017

28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1

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_3_early_met_1

Somatically mutated ABL1 is an actionable and essential NSCLC survival gene.

Testoni E et al.

Embo Molecular Medicine, 2016

26758680 (PubMed )
Supplement: EMMM-8-105-s006.xlsx › H1915_mutations_cBio

Somatic mutations in DROSHA and DICER1 impair microRNA biogenesis through distinct mechanisms in Wilms tumours.

Rakheja D et al.

Nature Communications, 2014

25190313 (PubMed )
Supplement: ncomms5802-s3.xlsx › Sheet1

Genomic profile analysis of diffuse-type gastric cancers.

Lee YS et al.

Genome Biology, 2014

24690483 (PubMed )
Supplement: gb-2014-15-4-r55-S2.xlsx › Additional_file_2
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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."