Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_assertion type Assertion NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_head.
- NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_assertion description "[We now report that autosomal-recessive omodysplasia, a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay, maps to chromosome 13 (13q31.1-q32.2) and is caused by point mutations or by larger genomic rearrangements in glypican 6 (GPC6).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_provenance.
- NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_assertion evidence source_evidence_literature NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_provenance.
- NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_assertion SIO_000772 19481194 NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_provenance.
- NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_assertion wasDerivedFrom befree-20140225 NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_provenance.
- NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_assertion wasGeneratedBy ECO_0000203 NP583946.RAv9J56dk3_0MSeysdN3iwfYuJGYTGagbsFaRH3Bv_AMk130_provenance.