Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_assertion type Assertion NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_head.
- NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_assertion wasGeneratedBy ECO_0000203 NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_provenance.
- NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_assertion wasDerivedFrom befree-20140225 NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_provenance.
- NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_assertion SIO_000772 9633819 NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_provenance.
- NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_assertion evidence source_evidence_literature NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_provenance.
- NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_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." NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_provenance.