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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 23142271 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[The finding of known loss of function variants in ciliopathy associated genes, AHI1, BBS2 and BBS4 in addition to KIF7 mutations provides evidence for oligogenic inheritance in ACLS and suggests that this might contribute to the phenotypic variability of KIF7-related disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.