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Frontiers of Medicine >> 2024, Volume 18, Issue 1 doi: 10.1007/s11684-023-1006-x
Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in , , and
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neurodevelopmental disorder ; autosomal recessive intellectual disability ; consanguinity ; spastic paraplegia ; hearing loss ; TMEM141
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