Varaico: Literature-Extracted Genetic Variants

Gene:EPRS1
Variant:p.Y419C
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EPRS1

NM_004446.3:p.Y419C

Associated Papers

Multi-Omics Characterization of the Spontaneous Mesenchymal-Epithelial Transition in the PMC42 Breast Cancer Cell Lines.

Bhatia S et al.

Journal of Clinical Medicine, 2019

31430931 (PubMed )
Supplement: jcm-08-01253-s001.zip › Supplementary_Info › Suppl_Tables.xlsx › S5.ET_SNP_deleterious

Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.

Hocking JC et al.

Plos Genetics, 2018

29522511 (PubMed )
Supplement: pgen.1007246.s002.xlsx › Sheet1

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

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A0A6-01A.domain
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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."