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Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in , , and

Frontiers of Medicine doi: 10.1007/s11684-023-1006-x

Abstract: Here, a Pakistani family with parental consanguinity was presented, characterized with severe intellectual

Keywords： neurodevelopmental disorder     autosomal recessive intellectual disability     consanguinity     spastic paraplegia    

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Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in , , and

Journal Article