Identification of nonsense variants in the ATM gene mimicking SCID phenotype: a brief report

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dc.contributor.authorFirtina, Sinem
dc.contributor.authorSaritas, Merve
dc.contributor.authorNg, Yuk Yin
dc.contributor.authorNepesov, Serdar
dc.contributor.authorKiykim, Ayca
dc.contributor.authorBozkurt, Selcen
dc.contributor.authorBilgic\\-Eltan, Sevgi
dc.contributor.authorNg, Ozden Hatirnaz
dc.contributor.authorSayitoglu, Muge
dc.date.accessioned2025-10-16T15:11:28Z
dc.date.issued2025
dc.identifier.doi10.1007/s12026-025-09638-1
dc.identifier.otherWOS:001489380700001
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/4717
dc.publisherSPRINGER
dc.sourceIMMUNOLOGIC RESEARCH
dc.subjectAtaxia\\-telangiectasia
dc.subjectSevere combined immunodeficiency
dc.subjectGenetic diagnosis
dc.subjectT\\-cell lymphopenia
dc.subject<italic>ATM<
dc.subjectitalic> gene
dc.titleIdentification of nonsense variants in the ATM gene mimicking SCID phenotype: a brief report
dc.typeArticle

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