Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP589537.RAlGed-5XFu8OURxViPylKefNOO0pjiWhwf5vh8E4c5-o130_assertion> ?p ?o ?g. }
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- NP589537.RAlGed-5XFu8OURxViPylKefNOO0pjiWhwf5vh8E4c5-o130_assertion type Assertion NP589537.RAlGed-5XFu8OURxViPylKefNOO0pjiWhwf5vh8E4c5-o130_head.
- NP589537.RAlGed-5XFu8OURxViPylKefNOO0pjiWhwf5vh8E4c5-o130_assertion wasGeneratedBy ECO_0000203 NP589537.RAlGed-5XFu8OURxViPylKefNOO0pjiWhwf5vh8E4c5-o130_provenance.
- NP589537.RAlGed-5XFu8OURxViPylKefNOO0pjiWhwf5vh8E4c5-o130_assertion wasDerivedFrom befree-20140225 NP589537.RAlGed-5XFu8OURxViPylKefNOO0pjiWhwf5vh8E4c5-o130_provenance.
- NP589537.RAlGed-5XFu8OURxViPylKefNOO0pjiWhwf5vh8E4c5-o130_assertion SIO_000772 23850728 NP589537.RAlGed-5XFu8OURxViPylKefNOO0pjiWhwf5vh8E4c5-o130_provenance.
- NP589537.RAlGed-5XFu8OURxViPylKefNOO0pjiWhwf5vh8E4c5-o130_assertion evidence source_evidence_literature NP589537.RAlGed-5XFu8OURxViPylKefNOO0pjiWhwf5vh8E4c5-o130_provenance.
- NP589537.RAlGed-5XFu8OURxViPylKefNOO0pjiWhwf5vh8E4c5-o130_assertion description "[Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosin 2 (TPM2), embryonic myosin heavy chain 3 (MYH3), and myosin binding protein C1 (MYBPC1), have been identified in distal arthrogryposis type 1 (DA1, MIM 108120), type 2B (DA2B, MIM 601680) and type 2A (DA2A)/Freeman-Sheldon syndrome (FSS, MIM 193700).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP589537.RAlGed-5XFu8OURxViPylKefNOO0pjiWhwf5vh8E4c5-o130_provenance.