Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP7671.RAeVq0T9Eq_5w6JfMqlu5Lgm2uA3ueXovajWU0sQPIIf4130_assertion> ?p ?o ?g. }
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- NP7671.RAeVq0T9Eq_5w6JfMqlu5Lgm2uA3ueXovajWU0sQPIIf4130_assertion type Assertion NP7671.RAeVq0T9Eq_5w6JfMqlu5Lgm2uA3ueXovajWU0sQPIIf4130_head.
- NP7671.RAeVq0T9Eq_5w6JfMqlu5Lgm2uA3ueXovajWU0sQPIIf4130_assertion description "[A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7671.RAeVq0T9Eq_5w6JfMqlu5Lgm2uA3ueXovajWU0sQPIIf4130_provenance.
- NP7671.RAeVq0T9Eq_5w6JfMqlu5Lgm2uA3ueXovajWU0sQPIIf4130_assertion evidence source_evidence_curated NP7671.RAeVq0T9Eq_5w6JfMqlu5Lgm2uA3ueXovajWU0sQPIIf4130_provenance.
- NP7671.RAeVq0T9Eq_5w6JfMqlu5Lgm2uA3ueXovajWU0sQPIIf4130_assertion SIO_000772 24069336 NP7671.RAeVq0T9Eq_5w6JfMqlu5Lgm2uA3ueXovajWU0sQPIIf4130_provenance.
- NP7671.RAeVq0T9Eq_5w6JfMqlu5Lgm2uA3ueXovajWU0sQPIIf4130_assertion wasDerivedFrom uniprot-2016 NP7671.RAeVq0T9Eq_5w6JfMqlu5Lgm2uA3ueXovajWU0sQPIIf4130_provenance.
- NP7671.RAeVq0T9Eq_5w6JfMqlu5Lgm2uA3ueXovajWU0sQPIIf4130_assertion wasGeneratedBy ECO_0000218 NP7671.RAeVq0T9Eq_5w6JfMqlu5Lgm2uA3ueXovajWU0sQPIIf4130_provenance.