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- assertion description "[A high SPRED1 mutation detection rate was found in NF1 mutation-negative families with an autosomal dominant phenotype of CALMs with or without freckling and no other NF1 features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 19920235 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.