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[16 novel mutations identified in COL4A3, COL4A4 & COL4A5 genes in Slovenian families with Alport syndrome & benign familial hematuria (BFH); 3 heterozygous mutations in the COL4A3 gene (2 missense & 1 frameshift) were identified in patients with BFH]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
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Gene-disease associations inferred from text-mining the literature.
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