Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1371164.RApQFXuKU_-Nr8oDyYWbYaNviW_8zyqmIOM9NpsFL9ers130_assertion> ?p ?o ?g. }
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- NP1371164.RApQFXuKU_-Nr8oDyYWbYaNviW_8zyqmIOM9NpsFL9ers130_assertion type Assertion NP1371164.RApQFXuKU_-Nr8oDyYWbYaNviW_8zyqmIOM9NpsFL9ers130_head.
- NP1371164.RApQFXuKU_-Nr8oDyYWbYaNviW_8zyqmIOM9NpsFL9ers130_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." NP1371164.RApQFXuKU_-Nr8oDyYWbYaNviW_8zyqmIOM9NpsFL9ers130_provenance.
- NP1371164.RApQFXuKU_-Nr8oDyYWbYaNviW_8zyqmIOM9NpsFL9ers130_assertion evidence source_evidence_literature NP1371164.RApQFXuKU_-Nr8oDyYWbYaNviW_8zyqmIOM9NpsFL9ers130_provenance.
- NP1371164.RApQFXuKU_-Nr8oDyYWbYaNviW_8zyqmIOM9NpsFL9ers130_assertion SIO_000772 9115626 NP1371164.RApQFXuKU_-Nr8oDyYWbYaNviW_8zyqmIOM9NpsFL9ers130_provenance.
- NP1371164.RApQFXuKU_-Nr8oDyYWbYaNviW_8zyqmIOM9NpsFL9ers130_assertion wasDerivedFrom befree-2016 NP1371164.RApQFXuKU_-Nr8oDyYWbYaNviW_8zyqmIOM9NpsFL9ers130_provenance.
- NP1371164.RApQFXuKU_-Nr8oDyYWbYaNviW_8zyqmIOM9NpsFL9ers130_assertion wasGeneratedBy ECO_0000203 NP1371164.RApQFXuKU_-Nr8oDyYWbYaNviW_8zyqmIOM9NpsFL9ers130_provenance.