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- B5587b8adfdef196854a974109334a448 hasDbXref "DOID:0110678" @default.
- B5587b8adfdef196854a974109334a448 hasDbXref "PMID:12141316" @default.
- B5587b8adfdef196854a974109334a448 hasDbXref "PMID:25792100" @default.
- B5587b8adfdef196854a974109334a448 hasDbXref "PMID:7531341" @default.
- B5587b8adfdef196854a974109334a448 type Axiom @default.
- B5587b8adfdef196854a974109334a448 annotatedProperty IAO_0000115 @default.
- B5587b8adfdef196854a974109334a448 annotatedSource MONDO_0011600 @default.
- B5587b8adfdef196854a974109334a448 annotatedTarget "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13." @default.