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[Of our five patients, two had a heterozygous missense mutation in exon 2 of TGFβ1 (c.466C>T, p.Arg156Cys, previously described in Camurati-Engelmann syndrome) and three had commonly found TGFβ1 polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
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