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[3 novel mutations in PORCN, c.373+1G > A, c.737 _ 738insA & c.1094G > A (p.R365Q), were identified in focal dermal hypoplasia patients (FDH); study shows PORCN is gene responsible for FDH in different populations & extends number of confirmed mutations to 26]. 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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