Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_assertion> ?p ?o ?g. }
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- NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_assertion type Assertion NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_head.
- NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_assertion description "[Albers-Sch�nberg 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." NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_provenance.
- NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_assertion evidence source_evidence_curated NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_provenance.
- NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_assertion SIO_000772 11741829 NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_provenance.
- NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_assertion wasDerivedFrom uniprot-2016 NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_provenance.
- NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_assertion wasGeneratedBy ECO_0000218 NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_provenance.