ArticleFrontiers in genetics2022

Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia.

Tatiana Maroilley et al.PubMed ↗Full text ↗Publisher ↗

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