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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion SIO_000772 11748844 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[The most frequent mutation in this study was the previously reported M467T and it was also detected in the normal population with an allelic frequency of 0.5%, which implies that other genes may be involved in cystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.