Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP401149.RAwB-HHz1IK9t6SYn6HUpxSDGhounhY6g-VdvTI-VV-ZU130_assertion> ?p ?o ?g. }
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- NP401149.RAwB-HHz1IK9t6SYn6HUpxSDGhounhY6g-VdvTI-VV-ZU130_assertion type Assertion NP401149.RAwB-HHz1IK9t6SYn6HUpxSDGhounhY6g-VdvTI-VV-ZU130_head.
- NP401149.RAwB-HHz1IK9t6SYn6HUpxSDGhounhY6g-VdvTI-VV-ZU130_assertion description "[Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP401149.RAwB-HHz1IK9t6SYn6HUpxSDGhounhY6g-VdvTI-VV-ZU130_provenance.
- NP401149.RAwB-HHz1IK9t6SYn6HUpxSDGhounhY6g-VdvTI-VV-ZU130_assertion evidence source_evidence_literature NP401149.RAwB-HHz1IK9t6SYn6HUpxSDGhounhY6g-VdvTI-VV-ZU130_provenance.
- NP401149.RAwB-HHz1IK9t6SYn6HUpxSDGhounhY6g-VdvTI-VV-ZU130_assertion SIO_000772 20528889 NP401149.RAwB-HHz1IK9t6SYn6HUpxSDGhounhY6g-VdvTI-VV-ZU130_provenance.
- NP401149.RAwB-HHz1IK9t6SYn6HUpxSDGhounhY6g-VdvTI-VV-ZU130_assertion wasDerivedFrom befree-20140225 NP401149.RAwB-HHz1IK9t6SYn6HUpxSDGhounhY6g-VdvTI-VV-ZU130_provenance.
- NP401149.RAwB-HHz1IK9t6SYn6HUpxSDGhounhY6g-VdvTI-VV-ZU130_assertion wasGeneratedBy ECO_0000203 NP401149.RAwB-HHz1IK9t6SYn6HUpxSDGhounhY6g-VdvTI-VV-ZU130_provenance.