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Novel Heterozygous Variants in KMT2D Associated with Holoprosencephaly

Lysine methyltransferase 2D (KMT2D; OMIM 602113) encodes a histone methyltransferase involved in transcriptional regulation of the beta-globin and estrogen receptor as part of a large protein complex known as activating signal cointegrator-2 -containing complex (ASCOM). Heterozygous germline mutatio...

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Detalhes bibliográficos
Publicado no:Clin Genet
Main Authors: Tekendo-Ngongang, Cedrik, Kruszka, Paul, Martinez, Ariel F, Muenke, Maximilian
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6690755/
https://ncbi.nlm.nih.gov/pubmed/31282990
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13598
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