Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1011886.RAPvyNeDvDzNp0ylqAKIHJrW0pfvuSlIGjMTd-OII8YkU130_assertion> ?p ?o ?g. }
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- NP1011886.RAPvyNeDvDzNp0ylqAKIHJrW0pfvuSlIGjMTd-OII8YkU130_assertion type Assertion NP1011886.RAPvyNeDvDzNp0ylqAKIHJrW0pfvuSlIGjMTd-OII8YkU130_head.
- NP1011886.RAPvyNeDvDzNp0ylqAKIHJrW0pfvuSlIGjMTd-OII8YkU130_assertion wasGeneratedBy ECO_0000203 NP1011886.RAPvyNeDvDzNp0ylqAKIHJrW0pfvuSlIGjMTd-OII8YkU130_provenance.
- NP1011886.RAPvyNeDvDzNp0ylqAKIHJrW0pfvuSlIGjMTd-OII8YkU130_assertion wasDerivedFrom befree-2016 NP1011886.RAPvyNeDvDzNp0ylqAKIHJrW0pfvuSlIGjMTd-OII8YkU130_provenance.
- NP1011886.RAPvyNeDvDzNp0ylqAKIHJrW0pfvuSlIGjMTd-OII8YkU130_assertion SIO_000772 22965130 NP1011886.RAPvyNeDvDzNp0ylqAKIHJrW0pfvuSlIGjMTd-OII8YkU130_provenance.
- NP1011886.RAPvyNeDvDzNp0ylqAKIHJrW0pfvuSlIGjMTd-OII8YkU130_assertion evidence source_evidence_literature NP1011886.RAPvyNeDvDzNp0ylqAKIHJrW0pfvuSlIGjMTd-OII8YkU130_provenance.
- NP1011886.RAPvyNeDvDzNp0ylqAKIHJrW0pfvuSlIGjMTd-OII8YkU130_assertion description "[Mutations in immunoglobulin µ-binding protein 2 (Ighmbp2) cause distal spinal muscular atrophy type 1 (DSMA1), an autosomal recessive disease that is clinically characterized by distal limb weakness and respiratory distress.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1011886.RAPvyNeDvDzNp0ylqAKIHJrW0pfvuSlIGjMTd-OII8YkU130_provenance.