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Article

Ataxia-telangiectasia with novel splicing mutations in the ATM gene.

Annals of laboratory medicine - 1 Jan 2014

Jeong Heejeong, Huh Hee Jae, Youn Jinyoung, Kim Ji Sun, Cho Jin Whan, Ki Chang-Seok

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Share to Ataxia Telangiectasia
Share to Ataxia Telangiectasia Mutated Proteins
Share to Chromosome Inversion
Share to Chromosomes, Human, Pair 14

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24422204
DOI: 10.3343/alm.2014.34.1.80
PMCID: PMC3885782

Genes

ATM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Ataxia-telangiectasia with novel splicing mutations in the ATM gene.PMID 24422204Read ↗

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Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.Semantic proximity Read ↗

Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia-telangiectasia.Semantic proximity Read ↗

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Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutationsSemantic proximity Read ↗

A Novel ATM Gene Variant (c.4940T>G; p.Leu1647Arg) in a Child with Ataxia–Telangiectasia: Clinical, Radiologic, and Genetic CorrelationSemantic proximity Read ↗

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