Varaico: Literature-Extracted Genetic Variants

Gene:EPB41
Variant:p.T283I
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EPB41

NM_001376013.1:p.T283I

Associated Papers

Identification of Poor Prognostic Markers in Triple-Negative Breast Cancer Using Whole Exome Sequencing.

Lee S et al.

Journal of Breast Cancer, 2025

41311331 (PubMed )
Supplement: jbc-28-406-s001.xls › jbc-28-406-s001

Novel mutation in alpha-spectrin gene in Saudi patients with hereditary spherocytosis.

Alshomar A et al.

Nucleosides, Nucleotides & Nucleic Acids, 2024

A novel EPB41 p.Trp704* mutation in a Korean patient with hereditary elliptocytosis: a case report.

Shin S et al.

Hematology (amsterdam, Netherlands), 2020

Gene variations in autism spectrum disorder are associated with alteration of gut microbiota, metabolites and cytokines.

Liu Z et al.

Gut Microbes, 0

33412999 (PubMed )
Supplement: KGMI_A_1854967_SM8160.zip › Supplementary__files › Supplementary_Tables.xlsx › Table_S1
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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."