Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_assertion> ?p ?o ?g. }
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- NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_assertion type Assertion NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_head.
- NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_assertion wasGeneratedBy ECO_0000203 NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_provenance.
- NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_assertion wasDerivedFrom befree-20140225 NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_provenance.
- NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_assertion SIO_000772 23840040 NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_provenance.
- NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_assertion evidence source_evidence_literature NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_provenance.
- NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_assertion description "[Mutations in solute carrier family 26 (sulfate transporter), member 2 (SLC26A2) gene result in a spectrum of autosomal recessive chondrodysplasias that range from the mildest recessive form of multiple epiphysial dysplasia (rMED) through the most common diastrophic dysplasia (DTD) to lethal atelosteogenesis type II and achondrogenesis IB.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP692987.RAnoFtxaDQKxMGpeGU9Adzx-0wjpZbjJpV-F2L-ZaAt9s130_provenance.