Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_assertion> ?p ?o ?g. }
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- NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_assertion type Assertion NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_head.
- NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_assertion wasGeneratedBy ECO_0000203 NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_provenance.
- NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_assertion wasDerivedFrom befree-2016 NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_provenance.
- NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_assertion SIO_000772 17431882 NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_provenance.
- NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_assertion evidence source_evidence_literature NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_provenance.
- NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_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." NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_provenance.