Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270… https://t.co/pjtsPqGr8J
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RT @muppys: Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identi…
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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 https://t.co/90mI8CxcN9
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📕 New publication from Dr. Tatiana Maroilley, with Dr. Gerald Pfeffer @pfefferlab (#NMD4C) as a co-author. 🔬https://t.co/hzYnTaY3me #neuromuscular #research