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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion SIO_000772 8981947 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[We identified a novel heterozygous Gly166Cys mutation in TIMP3 in all affected individuals and provide strong evidence for an autosomal dominant inheritance of the SFD phenotype in this family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.