Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK4
Variant:p.D736_E738ins1
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EIF2AK4

NM_001013703.4:p.D736_E738ins1

Associated Papers

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.

Soukarieh O et al.

Npj Genomic Medicine, 2023

37848456 (PubMed )
Supplement: 41525_2023_378_MOESM3_ESM.xlsx › Carrier_of_ENG_c.-68GA

Clonal germinal center B cells function as a niche for T-cell lymphoma.

Fujisawa M et al.

Blood, 2022

35921527 (PubMed )
Supplement: BLOOD_BLD-2022-015451-mmc1.xlsx › supplemental_Table_6

Clonal evolution patterns in acute myeloid leukemia with NPM1 mutation.

Cocciardi S et al.

Nature Communications, 2019

31048683 (PubMed )
Supplement: 41467_2019_9745_MOESM3_ESM.xlsx › Tabelle1

Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Bhattacharya S et al.

Genome Research, 2018

29567674 (PubMed )
Supplement: supp_gr.223693.117_Supplemental_Table_S8.xls › Indels_Exonic

A systematic review of genetic mutations in pulmonary arterial hypertension.

Garcia-Rivas G et al.

Bmc Medical Genetics, 2017

28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene

Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.

Berg KCG et al.

Molecular Cancer, 2017

28683746 (PubMed )
Supplement: 12943_2017_691_MOESM1_ESM.xlsx › Table_S5

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_5

Multiple region whole-exome sequencing reveals dramatically evolving intratumor genomic heterogeneity in esophageal squamous cell carcinoma.

Cao W et al.

Oncogenesis, 2015

26619400 (PubMed )
Supplement: oncsis201534x3.xls › PtA_nonsilmut_noreapt.txt

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
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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."