Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP891952.RA4a7Z6CUk_21UpB7Qp91U-IEbfDGjWtCb76YYTnyPrnY130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP891952.RA4a7Z6CUk_21UpB7Qp91U-IEbfDGjWtCb76YYTnyPrnY130_assertion type Assertion NP891952.RA4a7Z6CUk_21UpB7Qp91U-IEbfDGjWtCb76YYTnyPrnY130_head.
- NP891952.RA4a7Z6CUk_21UpB7Qp91U-IEbfDGjWtCb76YYTnyPrnY130_assertion description "[Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP891952.RA4a7Z6CUk_21UpB7Qp91U-IEbfDGjWtCb76YYTnyPrnY130_provenance.
- NP891952.RA4a7Z6CUk_21UpB7Qp91U-IEbfDGjWtCb76YYTnyPrnY130_assertion evidence source_evidence_literature NP891952.RA4a7Z6CUk_21UpB7Qp91U-IEbfDGjWtCb76YYTnyPrnY130_provenance.
- NP891952.RA4a7Z6CUk_21UpB7Qp91U-IEbfDGjWtCb76YYTnyPrnY130_assertion SIO_000772 16813530 NP891952.RA4a7Z6CUk_21UpB7Qp91U-IEbfDGjWtCb76YYTnyPrnY130_provenance.
- NP891952.RA4a7Z6CUk_21UpB7Qp91U-IEbfDGjWtCb76YYTnyPrnY130_assertion wasDerivedFrom befree-20150227 NP891952.RA4a7Z6CUk_21UpB7Qp91U-IEbfDGjWtCb76YYTnyPrnY130_provenance.
- NP891952.RA4a7Z6CUk_21UpB7Qp91U-IEbfDGjWtCb76YYTnyPrnY130_assertion wasGeneratedBy ECO_0000203 NP891952.RA4a7Z6CUk_21UpB7Qp91U-IEbfDGjWtCb76YYTnyPrnY130_provenance.