Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_assertion type Assertion NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_head.
- NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_assertion description "[Biallelic mutations in the IGHMBP2 gene proved the diagnosis of SMARD1 in all patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_provenance.
- NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_assertion evidence source_evidence_literature NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_provenance.
- NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_assertion SIO_000772 15248100 NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_provenance.
- NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_assertion wasDerivedFrom befree-2016 NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_provenance.
- NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_assertion wasGeneratedBy ECO_0000203 NP451620.RAU1Yxru6cssoXnvVB28C0dPukJDy99eCPEY31ogUKjqA130_provenance.