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Donor Splice-Site Mutation in CUL4B is Likely Cause of X-Linked Intellectual Disability
X-linked intellectual disability is the most common form of cognitive disability in males. Syndromic intellectual disability encompasses cognitive deficits with other medical and behavioral manifestations. Recently, a large family with a novel form of syndromic X-linked intellectual disability was c...
Kaydedildi:
Yayımlandı: | Am J Med Genet A |
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Asıl Yazarlar: | , , , , , , , , , |
Materyal Türü: | Artigo |
Dil: | Inglês |
Baskı/Yayın Bilgisi: |
2014
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Konular: | |
Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4404493/ https://ncbi.nlm.nih.gov/pubmed/24898194 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36629 |
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