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 - Jehan Suleiman, Korbinian M. Riedhammer, Timothy Jicinsky, Melinda Mundt, Laurie Werner, Mirjana Gusic, Anna L. Burgemeister, Hessa S. Alsaif, Maha Abdulrahim, Nabil N. Moghrabi, Manal Nicolas‐Jilwan, Moeenaldeen AlSayed, Weimin Bi, Srirangan Sampath, Fowzan S. Alkuraya - Dissemin

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Wiley, Human Mutation: Variation, Informatics and Disease, 11(40), p. 1985-1992, 2019

DOI: 10.1002/humu.23844

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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

Journal article published in 2019 by Jehan Suleiman, Korbinian M. Riedhammer

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, Timothy Jicinsky, Melinda Mundt, Laurie Werner, Mirjana Gusic, Anna L. Burgemeister, Hessa S. Alsaif, Maha Abdulrahim, Nabil N. Moghrabi, Manal Nicolas‐Jilwan, Moeenaldeen AlSayed, Weimin Bi, Srirangan Sampath, Fowzan S. Alkuraya

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and other authors.

This paper was not found in any repository, but could be made available legally by the author.

This paper was not found in any repository, but could be made available legally by the author.

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