Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B33a3886ed778c9690db2afebc87dee92> ?p ?o ?g. }
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- B33a3886ed778c9690db2afebc87dee92 NCIT_P378 "NCI" @default.
- B33a3886ed778c9690db2afebc87dee92 type Axiom @default.
- B33a3886ed778c9690db2afebc87dee92 annotatedProperty IAO_0000115 @default.
- B33a3886ed778c9690db2afebc87dee92 annotatedSource NCIT_C45586 @default.
- B33a3886ed778c9690db2afebc87dee92 annotatedTarget "An aberrant DNA sequence that results from a mutation in a sequence of eukaryotic DNA located in either an acceptor (3' or downstream) or donor (5' or upstream) splice site of a gene. Functional mutations in these intron-exon junctions cause incorrect RNA splicing, resulting in altered gene expression. Splice-site mutations may be heritable or occur somatically." @default.