Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.V27I
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ATM

NM_000051.4:p.V27I

Associated Papers

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.

Özyılmaz B et al.

Turkish Archives of Otorhinolaryngology, 2019

Rare germline variants in ATM are associated with chronic lymphocytic leukemia.

Tiao G et al.

Leukemia, 2017

28652578 (PubMed )
Supplement: NIHMS881987-supplement-1.docx

Molecular genetics study of deafness in Brazil: 8-year experience.

de Oliveira CA et al.

American Journal of Medical Genetics. Part A, 2007

Prevalent connexin 26 gene (GJB2) mutations in Japanese.

Abe S et al.

Journal of Medical Genetics, 2000

Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population.

Felix F et al.

Brazilian Journal of Otorhinolaryngology, 0

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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."