Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP356954.RAouF_5rkoNiPIoClbiE9iztUWAXZQWRxJoM1J6xHwE7U130_assertion> ?p ?o ?g. }
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- NP356954.RAouF_5rkoNiPIoClbiE9iztUWAXZQWRxJoM1J6xHwE7U130_assertion type Assertion NP356954.RAouF_5rkoNiPIoClbiE9iztUWAXZQWRxJoM1J6xHwE7U130_head.
- NP356954.RAouF_5rkoNiPIoClbiE9iztUWAXZQWRxJoM1J6xHwE7U130_assertion description "[Mutations in DYNC1H1 have been described in autosomal-dominant Charcot-Marie-Tooth type 2 and in families with distal spinal muscular atrophy (SMA) predominantly affecting the legs (SMA-LED).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP356954.RAouF_5rkoNiPIoClbiE9iztUWAXZQWRxJoM1J6xHwE7U130_provenance.
- NP356954.RAouF_5rkoNiPIoClbiE9iztUWAXZQWRxJoM1J6xHwE7U130_assertion evidence source_evidence_literature NP356954.RAouF_5rkoNiPIoClbiE9iztUWAXZQWRxJoM1J6xHwE7U130_provenance.
- NP356954.RAouF_5rkoNiPIoClbiE9iztUWAXZQWRxJoM1J6xHwE7U130_assertion SIO_000772 24307404 NP356954.RAouF_5rkoNiPIoClbiE9iztUWAXZQWRxJoM1J6xHwE7U130_provenance.
- NP356954.RAouF_5rkoNiPIoClbiE9iztUWAXZQWRxJoM1J6xHwE7U130_assertion wasDerivedFrom befree-20150227 NP356954.RAouF_5rkoNiPIoClbiE9iztUWAXZQWRxJoM1J6xHwE7U130_provenance.
- NP356954.RAouF_5rkoNiPIoClbiE9iztUWAXZQWRxJoM1J6xHwE7U130_assertion wasGeneratedBy ECO_0000203 NP356954.RAouF_5rkoNiPIoClbiE9iztUWAXZQWRxJoM1J6xHwE7U130_provenance.