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- assertion description "[Two siblings heterozygous for the mutations A460V and V572L/sibs had Nonaka myopathy (OMIM 605820).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 11916006 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.