atm gene

Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations
Nienke J H van Os, Luciana Chessa, Corry M R Weemaes, Marcel van Deuren, Alice Fiévet, Judith van Gaalen, Nizar Mahlaoui, Nel Roeleveld, Christoph Schrader, Detlev Schindler, Alexander M R Taylor, Bart P C Van de Warrenburg, Thilo Dörk, Michèl A A P Willemsen

Journal of Medical Genetics May 2019, 56 (5) 308-316; DOI: 10.1136/jmedgenet-2018-105635

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atm gene