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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 11809908 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.