Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP450007.RAU5ON5BmTfiuaM9B1039guX_zwo5ajeAmKvxkzdHJEGw130_assertion> ?p ?o ?g. }
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- NP450007.RAU5ON5BmTfiuaM9B1039guX_zwo5ajeAmKvxkzdHJEGw130_assertion type Assertion NP450007.RAU5ON5BmTfiuaM9B1039guX_zwo5ajeAmKvxkzdHJEGw130_head.
- NP450007.RAU5ON5BmTfiuaM9B1039guX_zwo5ajeAmKvxkzdHJEGw130_assertion description "[Mutations in the human TBX5 gene cause Holt-Oram syndrome (HOS), a disorder characterized by heart and upper limb deformities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP450007.RAU5ON5BmTfiuaM9B1039guX_zwo5ajeAmKvxkzdHJEGw130_provenance.
- NP450007.RAU5ON5BmTfiuaM9B1039guX_zwo5ajeAmKvxkzdHJEGw130_assertion evidence source_evidence_literature NP450007.RAU5ON5BmTfiuaM9B1039guX_zwo5ajeAmKvxkzdHJEGw130_provenance.
- NP450007.RAU5ON5BmTfiuaM9B1039guX_zwo5ajeAmKvxkzdHJEGw130_assertion SIO_000772 15221798 NP450007.RAU5ON5BmTfiuaM9B1039guX_zwo5ajeAmKvxkzdHJEGw130_provenance.
- NP450007.RAU5ON5BmTfiuaM9B1039guX_zwo5ajeAmKvxkzdHJEGw130_assertion wasDerivedFrom befree-2016 NP450007.RAU5ON5BmTfiuaM9B1039guX_zwo5ajeAmKvxkzdHJEGw130_provenance.
- NP450007.RAU5ON5BmTfiuaM9B1039guX_zwo5ajeAmKvxkzdHJEGw130_assertion wasGeneratedBy ECO_0000203 NP450007.RAU5ON5BmTfiuaM9B1039guX_zwo5ajeAmKvxkzdHJEGw130_provenance.