Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP702592.RA9qRinlIbJGJx9sIXY-ARVDqpIB0dSKajweZyg7nKrFk130_assertion> ?p ?o ?g. }
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- NP702592.RA9qRinlIbJGJx9sIXY-ARVDqpIB0dSKajweZyg7nKrFk130_assertion type Assertion NP702592.RA9qRinlIbJGJx9sIXY-ARVDqpIB0dSKajweZyg7nKrFk130_head.
- NP702592.RA9qRinlIbJGJx9sIXY-ARVDqpIB0dSKajweZyg7nKrFk130_assertion description "[Here we demonstrate that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP702592.RA9qRinlIbJGJx9sIXY-ARVDqpIB0dSKajweZyg7nKrFk130_provenance.
- NP702592.RA9qRinlIbJGJx9sIXY-ARVDqpIB0dSKajweZyg7nKrFk130_assertion evidence source_evidence_literature NP702592.RA9qRinlIbJGJx9sIXY-ARVDqpIB0dSKajweZyg7nKrFk130_provenance.
- NP702592.RA9qRinlIbJGJx9sIXY-ARVDqpIB0dSKajweZyg7nKrFk130_assertion SIO_000772 18997784 NP702592.RA9qRinlIbJGJx9sIXY-ARVDqpIB0dSKajweZyg7nKrFk130_provenance.
- NP702592.RA9qRinlIbJGJx9sIXY-ARVDqpIB0dSKajweZyg7nKrFk130_assertion wasDerivedFrom befree-2016 NP702592.RA9qRinlIbJGJx9sIXY-ARVDqpIB0dSKajweZyg7nKrFk130_provenance.
- NP702592.RA9qRinlIbJGJx9sIXY-ARVDqpIB0dSKajweZyg7nKrFk130_assertion wasGeneratedBy ECO_0000203 NP702592.RA9qRinlIbJGJx9sIXY-ARVDqpIB0dSKajweZyg7nKrFk130_provenance.