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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 18310267 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Our case provides clear evidence that loss-of-function alleles in both alleles of both CLCNKA and CLCNKB results in a phenotype indistinguishable from that of mutations in BSND (type IV BS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.