Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP856998.RADYWPVPxGoOv4F18fnVyzNguiSQWKn5NElIG_Eaw9zaw130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP856998.RADYWPVPxGoOv4F18fnVyzNguiSQWKn5NElIG_Eaw9zaw130_assertion type Assertion NP856998.RADYWPVPxGoOv4F18fnVyzNguiSQWKn5NElIG_Eaw9zaw130_head.
- NP856998.RADYWPVPxGoOv4F18fnVyzNguiSQWKn5NElIG_Eaw9zaw130_assertion description "[Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disease of unknown prevalence characterized by degeneration of anterior horn alpha-motoneurons and manifesting in the first 6months of life as life-threatening irreversible diaphragmatic paralysis associated with progressive symmetrical muscular weakness (distal lower limbs mainly involved), muscle atrophy, and peripheral sensory neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP856998.RADYWPVPxGoOv4F18fnVyzNguiSQWKn5NElIG_Eaw9zaw130_provenance.
- NP856998.RADYWPVPxGoOv4F18fnVyzNguiSQWKn5NElIG_Eaw9zaw130_assertion evidence source_evidence_literature NP856998.RADYWPVPxGoOv4F18fnVyzNguiSQWKn5NElIG_Eaw9zaw130_provenance.
- NP856998.RADYWPVPxGoOv4F18fnVyzNguiSQWKn5NElIG_Eaw9zaw130_assertion SIO_000772 16964485 NP856998.RADYWPVPxGoOv4F18fnVyzNguiSQWKn5NElIG_Eaw9zaw130_provenance.
- NP856998.RADYWPVPxGoOv4F18fnVyzNguiSQWKn5NElIG_Eaw9zaw130_assertion wasDerivedFrom befree-20140225 NP856998.RADYWPVPxGoOv4F18fnVyzNguiSQWKn5NElIG_Eaw9zaw130_provenance.
- NP856998.RADYWPVPxGoOv4F18fnVyzNguiSQWKn5NElIG_Eaw9zaw130_assertion wasGeneratedBy ECO_0000203 NP856998.RADYWPVPxGoOv4F18fnVyzNguiSQWKn5NElIG_Eaw9zaw130_provenance.