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Genetic Evaluation of kids with congenital ocular anomalies in three ecological areas of Nepal

Next generation sequencing reveals a novel pathogenic variant in the ATMgene   Introduction: Ataxia telangiectasia (A-T) is a uncommon autosomal recessive multisystemic illness. Sufferers with the A-T syndrome current a broad spectrum of illness phenotypes. The ATM (ataxia telangiectasia mutated) gene, the one causative gene for A-T.   Methodology: A affected person of Persian origin […]

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