Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP486916.RA7CLiXwA8TwSw5pEE9g8Th6jG2L49aaCnyac64woqDHM130_assertion> ?p ?o ?g. }
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- NP486916.RA7CLiXwA8TwSw5pEE9g8Th6jG2L49aaCnyac64woqDHM130_assertion type Assertion NP486916.RA7CLiXwA8TwSw5pEE9g8Th6jG2L49aaCnyac64woqDHM130_head.
- NP486916.RA7CLiXwA8TwSw5pEE9g8Th6jG2L49aaCnyac64woqDHM130_assertion wasGeneratedBy ECO_0000203 NP486916.RA7CLiXwA8TwSw5pEE9g8Th6jG2L49aaCnyac64woqDHM130_provenance.
- NP486916.RA7CLiXwA8TwSw5pEE9g8Th6jG2L49aaCnyac64woqDHM130_assertion wasDerivedFrom befree-20150227 NP486916.RA7CLiXwA8TwSw5pEE9g8Th6jG2L49aaCnyac64woqDHM130_provenance.
- NP486916.RA7CLiXwA8TwSw5pEE9g8Th6jG2L49aaCnyac64woqDHM130_assertion SIO_000772 17431882 NP486916.RA7CLiXwA8TwSw5pEE9g8Th6jG2L49aaCnyac64woqDHM130_provenance.
- NP486916.RA7CLiXwA8TwSw5pEE9g8Th6jG2L49aaCnyac64woqDHM130_assertion evidence source_evidence_literature NP486916.RA7CLiXwA8TwSw5pEE9g8Th6jG2L49aaCnyac64woqDHM130_provenance.
- NP486916.RA7CLiXwA8TwSw5pEE9g8Th6jG2L49aaCnyac64woqDHM130_assertion description "[Mutations in the immunoglobulin micro-binding protein gene (IGHMBP2) lead to SMARD1, but clinical criteria that delineate SMARD1 from other SMARD syndromes are not well established.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP486916.RA7CLiXwA8TwSw5pEE9g8Th6jG2L49aaCnyac64woqDHM130_provenance.