Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP931606.RAb8adPmZ2hItFY1vXX-NMOXb52sJlCB-zriqcMKMnYDk130_assertion> ?p ?o ?g. }
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- NP931606.RAb8adPmZ2hItFY1vXX-NMOXb52sJlCB-zriqcMKMnYDk130_assertion type Assertion NP931606.RAb8adPmZ2hItFY1vXX-NMOXb52sJlCB-zriqcMKMnYDk130_head.
- NP931606.RAb8adPmZ2hItFY1vXX-NMOXb52sJlCB-zriqcMKMnYDk130_assertion description "[We report here the first case of an L1CAM gene mutation identified in mental retardation, adducted thumbs, shuffling gait, and aphasia (MASA) syndrome in Japan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP931606.RAb8adPmZ2hItFY1vXX-NMOXb52sJlCB-zriqcMKMnYDk130_provenance.
- NP931606.RAb8adPmZ2hItFY1vXX-NMOXb52sJlCB-zriqcMKMnYDk130_assertion evidence source_evidence_literature NP931606.RAb8adPmZ2hItFY1vXX-NMOXb52sJlCB-zriqcMKMnYDk130_provenance.
- NP931606.RAb8adPmZ2hItFY1vXX-NMOXb52sJlCB-zriqcMKMnYDk130_assertion SIO_000772 15904436 NP931606.RAb8adPmZ2hItFY1vXX-NMOXb52sJlCB-zriqcMKMnYDk130_provenance.
- NP931606.RAb8adPmZ2hItFY1vXX-NMOXb52sJlCB-zriqcMKMnYDk130_assertion wasDerivedFrom befree-20140225 NP931606.RAb8adPmZ2hItFY1vXX-NMOXb52sJlCB-zriqcMKMnYDk130_provenance.
- NP931606.RAb8adPmZ2hItFY1vXX-NMOXb52sJlCB-zriqcMKMnYDk130_assertion wasGeneratedBy ECO_0000203 NP931606.RAb8adPmZ2hItFY1vXX-NMOXb52sJlCB-zriqcMKMnYDk130_provenance.