Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L2312I
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ATM

NM_000051.4:p.L2312I

Associated Papers

Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review.

Miller DB et al.

Frontiers in Genetics, 2020

32508881 (PubMed )
Supplement: Data_Sheet_1.xlsx › T2

Novel biallelic ATM mutations coexist with a mosaic form of triple X syndrome in an 11-year-old girl at remission after T cell acute leukemia.

Sharapova SO et al.

Immunogenetics, 2018

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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."