Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1175702.RAQnPk8yjwHm14D8vM2jxDR_C_byhiDtd1qUT2_gLCtBU130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1175702.RAQnPk8yjwHm14D8vM2jxDR_C_byhiDtd1qUT2_gLCtBU130_assertion type Assertion NP1175702.RAQnPk8yjwHm14D8vM2jxDR_C_byhiDtd1qUT2_gLCtBU130_head.
- NP1175702.RAQnPk8yjwHm14D8vM2jxDR_C_byhiDtd1qUT2_gLCtBU130_assertion description "[Mutations in the gene encoding the heavy chain subunit (DYNC1H1) of cytoplasmic dynein cause spinal muscular atrophy with lower extremity predominance, Charcot-Marie-Tooth disease and intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1175702.RAQnPk8yjwHm14D8vM2jxDR_C_byhiDtd1qUT2_gLCtBU130_provenance.
- NP1175702.RAQnPk8yjwHm14D8vM2jxDR_C_byhiDtd1qUT2_gLCtBU130_assertion evidence source_evidence_literature NP1175702.RAQnPk8yjwHm14D8vM2jxDR_C_byhiDtd1qUT2_gLCtBU130_provenance.
- NP1175702.RAQnPk8yjwHm14D8vM2jxDR_C_byhiDtd1qUT2_gLCtBU130_assertion SIO_000772 24755273 NP1175702.RAQnPk8yjwHm14D8vM2jxDR_C_byhiDtd1qUT2_gLCtBU130_provenance.
- NP1175702.RAQnPk8yjwHm14D8vM2jxDR_C_byhiDtd1qUT2_gLCtBU130_assertion wasDerivedFrom befree-2016 NP1175702.RAQnPk8yjwHm14D8vM2jxDR_C_byhiDtd1qUT2_gLCtBU130_provenance.
- NP1175702.RAQnPk8yjwHm14D8vM2jxDR_C_byhiDtd1qUT2_gLCtBU130_assertion wasGeneratedBy ECO_0000203 NP1175702.RAQnPk8yjwHm14D8vM2jxDR_C_byhiDtd1qUT2_gLCtBU130_provenance.