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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Am J Med Genet A |
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| Κύριοι συγγραφείς: | , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2014
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| Θέματα: | |
| Διαθέσιμο Online: | 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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