Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP547974.RAZLKfUvj2JtyN_mvD6qkAv26FMsMdTsRqor0X45XxuF0130_assertion> ?p ?o ?g. }
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- NP547974.RAZLKfUvj2JtyN_mvD6qkAv26FMsMdTsRqor0X45XxuF0130_assertion type Assertion NP547974.RAZLKfUvj2JtyN_mvD6qkAv26FMsMdTsRqor0X45XxuF0130_head.
- NP547974.RAZLKfUvj2JtyN_mvD6qkAv26FMsMdTsRqor0X45XxuF0130_assertion description "[On the basis of the present data, and the nearly identical clinical and/or pathological phenotype of the other reported cases of congenital NCL, it is reasonable to suggest that cathepsin D deficiency caused by mutations in the corresponding gene may underlie all cases of congenital NCL.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP547974.RAZLKfUvj2JtyN_mvD6qkAv26FMsMdTsRqor0X45XxuF0130_provenance.
- NP547974.RAZLKfUvj2JtyN_mvD6qkAv26FMsMdTsRqor0X45XxuF0130_assertion evidence source_evidence_literature NP547974.RAZLKfUvj2JtyN_mvD6qkAv26FMsMdTsRqor0X45XxuF0130_provenance.
- NP547974.RAZLKfUvj2JtyN_mvD6qkAv26FMsMdTsRqor0X45XxuF0130_assertion SIO_000772 16670177 NP547974.RAZLKfUvj2JtyN_mvD6qkAv26FMsMdTsRqor0X45XxuF0130_provenance.
- NP547974.RAZLKfUvj2JtyN_mvD6qkAv26FMsMdTsRqor0X45XxuF0130_assertion wasDerivedFrom befree-2016 NP547974.RAZLKfUvj2JtyN_mvD6qkAv26FMsMdTsRqor0X45XxuF0130_provenance.
- NP547974.RAZLKfUvj2JtyN_mvD6qkAv26FMsMdTsRqor0X45XxuF0130_assertion wasGeneratedBy ECO_0000203 NP547974.RAZLKfUvj2JtyN_mvD6qkAv26FMsMdTsRqor0X45XxuF0130_provenance.