Novel de novo heterozygous loss-of-function variants in...

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European Journal of Human Genetics 2015 / 02

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

Cafiero, Concetta, Marangi, Giuseppe, Orteschi, Daniela, Ali, Marwan, Asaro, Alessia, Ponzi, Emanuela, Moncada, Alice, Ricciardi, Stefania, Murdolo, Marina, Mancano, Giorgia, Contaldo, Ilaria, Leuzzi,
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Language:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2015.19
Date:
February, 2015
File:
PDF, 843 KB
english, 2015
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