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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

Panoramic variation analysis reveals that multilocus genomic variations of TMEM141, DDHD2, and LHFPL5 together cause variable phenotypes in the Pakistani family, and biallelic loss-of-function variants of TMEM141 are responsible for syndromic intellectual disability.

September 30, 2025


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