Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP573461.RATkioDPoahUj9yrNLcEdUJlz3cWsq-P-q6VDvyHtnFaE130_assertion> ?p ?o ?g. }
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- NP573461.RATkioDPoahUj9yrNLcEdUJlz3cWsq-P-q6VDvyHtnFaE130_assertion type Assertion NP573461.RATkioDPoahUj9yrNLcEdUJlz3cWsq-P-q6VDvyHtnFaE130_head.
- NP573461.RATkioDPoahUj9yrNLcEdUJlz3cWsq-P-q6VDvyHtnFaE130_assertion description "[We report the first homozygous mutation in the DNM2 protein p.Phe379Val, in three consanguineous patients with a lethal congenital syndrome associating akinesia, joint contractures, hypotonia, skeletal abnormalities, and brain and retinal hemorrhages.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP573461.RATkioDPoahUj9yrNLcEdUJlz3cWsq-P-q6VDvyHtnFaE130_provenance.
- NP573461.RATkioDPoahUj9yrNLcEdUJlz3cWsq-P-q6VDvyHtnFaE130_assertion evidence source_evidence_literature NP573461.RATkioDPoahUj9yrNLcEdUJlz3cWsq-P-q6VDvyHtnFaE130_provenance.
- NP573461.RATkioDPoahUj9yrNLcEdUJlz3cWsq-P-q6VDvyHtnFaE130_assertion SIO_000772 23092955 NP573461.RATkioDPoahUj9yrNLcEdUJlz3cWsq-P-q6VDvyHtnFaE130_provenance.
- NP573461.RATkioDPoahUj9yrNLcEdUJlz3cWsq-P-q6VDvyHtnFaE130_assertion wasDerivedFrom befree-20140225 NP573461.RATkioDPoahUj9yrNLcEdUJlz3cWsq-P-q6VDvyHtnFaE130_provenance.
- NP573461.RATkioDPoahUj9yrNLcEdUJlz3cWsq-P-q6VDvyHtnFaE130_assertion wasGeneratedBy ECO_0000203 NP573461.RATkioDPoahUj9yrNLcEdUJlz3cWsq-P-q6VDvyHtnFaE130_provenance.