Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_assertion> ?p ?o ?g. }
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- NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_assertion type Assertion NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_head.
- NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_assertion description "[Using exome sequencing in two families with PTD, we identified a new causative gene, GNAL, with a nonsense mutation encoding p.Ser293* resulting in a premature stop codon in one family and a missense mutation encoding p.Val137Met in the other.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_provenance.
- NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_assertion evidence source_evidence_curated NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_provenance.
- NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_assertion SIO_000772 23222958 NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_provenance.
- NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_assertion wasDerivedFrom ctd_human-20130708 NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_provenance.
- NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_assertion wasGeneratedBy ECO_0000218 NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_provenance.