Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

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http://www.wikidata.org/entity/Q51852497
Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approachesKCMF1 (potassium channel modulatory factor 1) Links RAD6 to UBR4 (ubiquitin N-recognin domain-containing E3 ligase 4) and lysosome-mediated degradation.Intellectual Disability: When the Hypertrichosis Is a ClueX-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityMx gene diversity and influenza association among five wild dabbling duck species (Anas spp.) in Alaska.Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severityUtilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome.Role of the ubiquitin-proteasome system in nervous system function and disease: using C. elegans as a dissecting tool.A systematic review of genetic syndromes with obesity.A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.Ocular manifestations in the X-linked intellectual disability syndromes.An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression.New Insights into the Role of E2s in the Pathogenesis of Diseases: Lessons Learned from UBE2O.UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.
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Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

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http://www.wikidata.org/entity/Q51852497
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2010 nî lūn-bûn
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2010年の論文
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2010年学术文章
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2010年学术文章
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2010年学术文章
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name
Novel missense mutations in th ...... d mental retardation syndrome.
@en
Novel missense mutations in th ...... d mental retardation syndrome.
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type
label
Novel missense mutations in th ...... d mental retardation syndrome.
@en
Novel missense mutations in th ...... d mental retardation syndrome.
@nl
prefLabel
Novel missense mutations in th ...... d mental retardation syndrome.
@en
Novel missense mutations in th ...... d mental retardation syndrome.
@nl
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Novel missense mutations in th ...... ed mental retardation syndrome
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P2860
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P356
10.1111/J.1399-0004.2010.01429.X
P433
P478
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P577
P698
P921