Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP464054.RALjnoS4Q7NVLnivTcfAHkDQu8A7fOsPlhXDk_77ln98E130_assertion> ?p ?o ?g. }
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- NP464054.RALjnoS4Q7NVLnivTcfAHkDQu8A7fOsPlhXDk_77ln98E130_assertion type Assertion NP464054.RALjnoS4Q7NVLnivTcfAHkDQu8A7fOsPlhXDk_77ln98E130_head.
- NP464054.RALjnoS4Q7NVLnivTcfAHkDQu8A7fOsPlhXDk_77ln98E130_assertion description "[A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP464054.RALjnoS4Q7NVLnivTcfAHkDQu8A7fOsPlhXDk_77ln98E130_provenance.
- NP464054.RALjnoS4Q7NVLnivTcfAHkDQu8A7fOsPlhXDk_77ln98E130_assertion evidence source_evidence_literature NP464054.RALjnoS4Q7NVLnivTcfAHkDQu8A7fOsPlhXDk_77ln98E130_provenance.
- NP464054.RALjnoS4Q7NVLnivTcfAHkDQu8A7fOsPlhXDk_77ln98E130_assertion SIO_000772 20406614 NP464054.RALjnoS4Q7NVLnivTcfAHkDQu8A7fOsPlhXDk_77ln98E130_provenance.
- NP464054.RALjnoS4Q7NVLnivTcfAHkDQu8A7fOsPlhXDk_77ln98E130_assertion wasDerivedFrom befree-20150227 NP464054.RALjnoS4Q7NVLnivTcfAHkDQu8A7fOsPlhXDk_77ln98E130_provenance.
- NP464054.RALjnoS4Q7NVLnivTcfAHkDQu8A7fOsPlhXDk_77ln98E130_assertion wasGeneratedBy ECO_0000203 NP464054.RALjnoS4Q7NVLnivTcfAHkDQu8A7fOsPlhXDk_77ln98E130_provenance.