Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP1199.RApku8Iylg_xPq-dOxHloaP00dtChJ247lE8zx0kr3zL4130_assertion> ?p ?o ?g. }
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- NP1199.RApku8Iylg_xPq-dOxHloaP00dtChJ247lE8zx0kr3zL4130_assertion type Assertion NP1199.RApku8Iylg_xPq-dOxHloaP00dtChJ247lE8zx0kr3zL4130_head.
- NP1199.RApku8Iylg_xPq-dOxHloaP00dtChJ247lE8zx0kr3zL4130_assertion description "[Albers-Schnberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1199.RApku8Iylg_xPq-dOxHloaP00dtChJ247lE8zx0kr3zL4130_provenance.
- NP1199.RApku8Iylg_xPq-dOxHloaP00dtChJ247lE8zx0kr3zL4130_assertion evidence source_evidence_curated NP1199.RApku8Iylg_xPq-dOxHloaP00dtChJ247lE8zx0kr3zL4130_provenance.
- NP1199.RApku8Iylg_xPq-dOxHloaP00dtChJ247lE8zx0kr3zL4130_assertion SIO_000772 11741829 NP1199.RApku8Iylg_xPq-dOxHloaP00dtChJ247lE8zx0kr3zL4130_provenance.
- NP1199.RApku8Iylg_xPq-dOxHloaP00dtChJ247lE8zx0kr3zL4130_assertion wasDerivedFrom uniprot-20130724 NP1199.RApku8Iylg_xPq-dOxHloaP00dtChJ247lE8zx0kr3zL4130_provenance.
- NP1199.RApku8Iylg_xPq-dOxHloaP00dtChJ247lE8zx0kr3zL4130_assertion wasGeneratedBy ECO_0000218 NP1199.RApku8Iylg_xPq-dOxHloaP00dtChJ247lE8zx0kr3zL4130_provenance.