Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies
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| Description | scientific article published on 22 July 2019 |
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| Publication date | July 22, 2019 |
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