Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.T75I
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ECHS1

NM_004092.4:p.T75I

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Bateman NW et al.

Iscience, 2022

35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM10_ESM.xlsx › Supplementary_Data_7

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations.

Pajares S et al.

Molecular Genetics and Metabolism Reports, 2020

Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Nishimura T et al.

Frontiers in Oncology, 2020

32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ001

"Omics" data integration and functional analyses link Enoyl-CoA hydratase, short chain 1 to drug refractory dilated cardiomyopathy.

Campbell NV et al.

Bmc Medical Genomics, 2018

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-A2-A04Y-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."