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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 16338941 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[A clinical evaluation of probands and their relatives of the five families carrying mutations in either the COL4A3 or the COL4A4 gene was carried out to underline the natural history of the autosomal recessive ATS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.