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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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| Publicado no: | Clin Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| 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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