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Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation
Mental retardation (MR) is characterized by cognitive impairment with an IQ <70. Many of the major causes are genetically determined and the ∼30% male excess suggests that mutations in genes carried on the X chromosome are disproportionably represented. One such gene, jumonji AT-rich interactive...
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Principais autores: | , , , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Nature Publishing Group
2010
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2987212/ https://ncbi.nlm.nih.gov/pubmed/19826449 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.175 |
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