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- B3b16c1e1e0db9cebfbbc0e5ef9f61a96 NCIT_P378 "NCI" @default.
- B3b16c1e1e0db9cebfbbc0e5ef9f61a96 type Axiom @default.
- B3b16c1e1e0db9cebfbbc0e5ef9f61a96 annotatedProperty IAO_0000115 @default.
- B3b16c1e1e0db9cebfbbc0e5ef9f61a96 annotatedSource NCIT_C192738 @default.
- B3b16c1e1e0db9cebfbbc0e5ef9f61a96 annotatedTarget "Human C19orf12 wild-type allele is located in the vicinity of 19q12 and is approximately 17 kb in length. This allele, which encodes protein C19orf12, may be involved in mitochondrial calcium ion homeostasis and cellular stress responses. Nonsense mutations in exon 3 of the gene are associated with neurodegeneration with brain iron accumulation 4 and a missense mutation may be associated with autosomal recessive spastic paraplegia 43." @default.