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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 22549409 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Clinical phenotype in POMT1-mutated patients ranges from congenital muscular dystrophy (CMD) with structural brain abnormalities, to limb-girdle muscular dystrophy (LGMD) with microcephaly and mental retardation, to mild LGMD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.