Varaico: Literature-Extracted Genetic Variants

Gene:EHBP1
Variant:p.K720Q
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EHBP1

NM_001142616.3:p.K720Q

Associated Papers

Detection of Circulating mRNA Variants in Hepatocellular Carcinoma Patients Using Targeted RNAseq.

Zezulinski D et al.

Liver Cancer, 2025

40331063 (PubMed )
Supplement: Supplementary_material-Suppl.2-s2.xlsx › Supp_Table_7

GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis.

Skuladottir AT et al.

Communications Biology, 2024

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-0007-Table_S10.xlsx › Sheet1

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-A7-A0CG-01A.domain
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