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Am J Hum Genet. 2004 Apr;74(4):777-80.

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.

PMID:
15024694
PMCID:
PMC1181956
DOI:
10.1086/383205
[Indexed for MEDLINE]
Free PMC Article
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