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Browsing Tag

Neurodevelopmental Disorder;autosomal recessive intellectual disability;consanguinity;spastic paraplegia;Hearing Loss;TMEM141

1 post
HHealth
Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5
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Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5

  • September 30, 2025
Researchers from School of Basic Medicine Peking Union Medical College have conducted a study entitled “Panoramic variation analysis of a family…
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