Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_assertion type Assertion NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_head.
- NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_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." NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_provenance.
- NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_assertion evidence source_evidence_literature NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_provenance.
- NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_assertion SIO_000772 16813530 NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_provenance.
- NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_assertion wasDerivedFrom befree-2016 NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_provenance.
- NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_assertion wasGeneratedBy ECO_0000203 NP557501.RA3ZuutpVn02cOWzu9dEi03e8M275JBEt8WhOkFp6aiPg130_provenance.