Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP691151.RAVOYQyy2YGHpQrOnx5Ei31uD7CalpgneLd73R7rwasSM130_assertion> ?p ?o ?g. }
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- NP691151.RAVOYQyy2YGHpQrOnx5Ei31uD7CalpgneLd73R7rwasSM130_assertion type Assertion NP691151.RAVOYQyy2YGHpQrOnx5Ei31uD7CalpgneLd73R7rwasSM130_head.
- NP691151.RAVOYQyy2YGHpQrOnx5Ei31uD7CalpgneLd73R7rwasSM130_assertion description "[Here, we report the identification of mutations in transport protein particle complex 11 (TRAPPC11) in three individuals of a consanguineous Syrian family presenting with LGMD and in five individuals of Hutterite descent presenting with myopathy, infantile hyperkinetic movements, ataxia, and intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP691151.RAVOYQyy2YGHpQrOnx5Ei31uD7CalpgneLd73R7rwasSM130_provenance.
- NP691151.RAVOYQyy2YGHpQrOnx5Ei31uD7CalpgneLd73R7rwasSM130_assertion evidence source_evidence_literature NP691151.RAVOYQyy2YGHpQrOnx5Ei31uD7CalpgneLd73R7rwasSM130_provenance.
- NP691151.RAVOYQyy2YGHpQrOnx5Ei31uD7CalpgneLd73R7rwasSM130_assertion SIO_000772 23830518 NP691151.RAVOYQyy2YGHpQrOnx5Ei31uD7CalpgneLd73R7rwasSM130_provenance.
- NP691151.RAVOYQyy2YGHpQrOnx5Ei31uD7CalpgneLd73R7rwasSM130_assertion wasDerivedFrom befree-20140225 NP691151.RAVOYQyy2YGHpQrOnx5Ei31uD7CalpgneLd73R7rwasSM130_provenance.
- NP691151.RAVOYQyy2YGHpQrOnx5Ei31uD7CalpgneLd73R7rwasSM130_assertion wasGeneratedBy ECO_0000203 NP691151.RAVOYQyy2YGHpQrOnx5Ei31uD7CalpgneLd73R7rwasSM130_provenance.