Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP368006.RA1Gk-Kx_8QgVc2pP60QvwpuTFKM7mvQssHgGiTQb6jZM130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP368006.RA1Gk-Kx_8QgVc2pP60QvwpuTFKM7mvQssHgGiTQb6jZM130_assertion type Assertion NP368006.RA1Gk-Kx_8QgVc2pP60QvwpuTFKM7mvQssHgGiTQb6jZM130_head.
- NP368006.RA1Gk-Kx_8QgVc2pP60QvwpuTFKM7mvQssHgGiTQb6jZM130_assertion description "[1) Mutations in myotilin cause MFM; 2) exon 2 of MYOT is a hotspot for mutations; 3) peripheral neuropathy, cardiomyopathy, and distal weakness greater than proximal weakness are part of the spectrum of myotilinopathy; 4) not all cases of myotilinopathy have a limb-girdle phenotype; and 5) the molecular basis of the majority of MFM cases remains to be discovered.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP368006.RA1Gk-Kx_8QgVc2pP60QvwpuTFKM7mvQssHgGiTQb6jZM130_provenance.
- NP368006.RA1Gk-Kx_8QgVc2pP60QvwpuTFKM7mvQssHgGiTQb6jZM130_assertion evidence source_evidence_literature NP368006.RA1Gk-Kx_8QgVc2pP60QvwpuTFKM7mvQssHgGiTQb6jZM130_provenance.
- NP368006.RA1Gk-Kx_8QgVc2pP60QvwpuTFKM7mvQssHgGiTQb6jZM130_assertion SIO_000772 15111675 NP368006.RA1Gk-Kx_8QgVc2pP60QvwpuTFKM7mvQssHgGiTQb6jZM130_provenance.
- NP368006.RA1Gk-Kx_8QgVc2pP60QvwpuTFKM7mvQssHgGiTQb6jZM130_assertion wasDerivedFrom befree-20140225 NP368006.RA1Gk-Kx_8QgVc2pP60QvwpuTFKM7mvQssHgGiTQb6jZM130_provenance.
- NP368006.RA1Gk-Kx_8QgVc2pP60QvwpuTFKM7mvQssHgGiTQb6jZM130_assertion wasGeneratedBy ECO_0000203 NP368006.RA1Gk-Kx_8QgVc2pP60QvwpuTFKM7mvQssHgGiTQb6jZM130_provenance.