Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP264485.RAUlJ3ZYMdtQuyEFD2RGW0pjiT6yLPKAXJ81umzUIbOto130_assertion> ?p ?o ?g. }
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- NP264485.RAUlJ3ZYMdtQuyEFD2RGW0pjiT6yLPKAXJ81umzUIbOto130_assertion type Assertion NP264485.RAUlJ3ZYMdtQuyEFD2RGW0pjiT6yLPKAXJ81umzUIbOto130_head.
- NP264485.RAUlJ3ZYMdtQuyEFD2RGW0pjiT6yLPKAXJ81umzUIbOto130_assertion description "[KTS (lysine-threonine-serine) splice site mutations in WT1 intron 9 have been described in patients with Frasier syndrome, another rare syndrome defined by focal and segmental glomerulosclerosis (FSGS), XY pseudohermaphroditism, and frequent occurrence of gonadoblastoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP264485.RAUlJ3ZYMdtQuyEFD2RGW0pjiT6yLPKAXJ81umzUIbOto130_provenance.
- NP264485.RAUlJ3ZYMdtQuyEFD2RGW0pjiT6yLPKAXJ81umzUIbOto130_assertion evidence source_evidence_literature NP264485.RAUlJ3ZYMdtQuyEFD2RGW0pjiT6yLPKAXJ81umzUIbOto130_provenance.
- NP264485.RAUlJ3ZYMdtQuyEFD2RGW0pjiT6yLPKAXJ81umzUIbOto130_assertion SIO_000772 10505700 NP264485.RAUlJ3ZYMdtQuyEFD2RGW0pjiT6yLPKAXJ81umzUIbOto130_provenance.
- NP264485.RAUlJ3ZYMdtQuyEFD2RGW0pjiT6yLPKAXJ81umzUIbOto130_assertion wasDerivedFrom befree-2016 NP264485.RAUlJ3ZYMdtQuyEFD2RGW0pjiT6yLPKAXJ81umzUIbOto130_provenance.
- NP264485.RAUlJ3ZYMdtQuyEFD2RGW0pjiT6yLPKAXJ81umzUIbOto130_assertion wasGeneratedBy ECO_0000203 NP264485.RAUlJ3ZYMdtQuyEFD2RGW0pjiT6yLPKAXJ81umzUIbOto130_provenance.