Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_assertion> ?p ?o ?g. }
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- NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_assertion type Assertion NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_head.
- NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_assertion description "[Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia characterized by short stature, sparse hair, and a variable degree of immunodeficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_provenance.
- NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_assertion evidence source_evidence_literature NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_provenance.
- NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_assertion SIO_000772 9115626 NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_provenance.
- NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_assertion wasDerivedFrom befree-20140225 NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_provenance.
- NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_assertion wasGeneratedBy ECO_0000203 NP697133.RAJyWul3RZSCwUW-L4hQCrRCm_TCDh9K-DHZ0zUrX-Gt8130_provenance.