Varaico: Literature-Extracted Genetic Variants

Gene:EZR
Variant:p.A129T
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EZR

NM_001111077.2:p.A129T

Associated Papers

Familial colorectal cancer: search for novel predisposition genes.

Försti A et al.

Human Genomics, 2025

41469725 (PubMed )
Supplement: 40246_2025_901_MOESM3_ESM.xlsx › A._Missense

Congenital enteropathy caused by ezrin deficiency.

Vogel GF et al.

Human Genetics, 2025

Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers.

Försti A et al.

International Journal of Cancer, 2025

39654522 (PubMed )
Supplement: IJC-156-1393-s002.xlsx › 3A._Missense

Inherited human ezrin deficiency impairs adaptive immunity.

García-Solís B et al.

The Journal of Allergy and Clinical Immunology, 2023

Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions.

Esdal HCD et al.

Molecular Syndromology, 2018

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS et al.

Jama Psychiatry, 2017

Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability.

Riecken LB et al.

Human Mutation, 2015

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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."