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- Ba3801887e288c1891b0fae8390c973b6 NCIT_P378 "NCI" @default.
- Ba3801887e288c1891b0fae8390c973b6 type Axiom @default.
- Ba3801887e288c1891b0fae8390c973b6 annotatedProperty IAO_0000115 @default.
- Ba3801887e288c1891b0fae8390c973b6 annotatedSource NCIT_C201103 @default.
- Ba3801887e288c1891b0fae8390c973b6 annotatedTarget "Human ESPN wild-type allele is located in the vicinity of 1p36.31 and is approximately 37 kb in length. This allele, which encodes espin protein, plays a role in microvillus formation, function and maintenance in mechanosensory and chemosensory cells. Mutation of the gene is associated with type 1M Usher syndrome, autosomal recessive neurosensory deafness type 36 and autosomal dominant sensorineural deafness without vestibular involvement." @default.