Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1092782.RAhWQXXAIqZBJVRw5cFpv8Z9wz80p4IPnXY1JHBD0fQX8#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 9633819 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[A further CESD patient was hemizygous for a His108-->Arg missense mutation (CAT-->CGT) in combination with a partial deletion of the LAL gene and was affected more severely.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.