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- B037e4aba6ee51b80149999e32c2e7446 hasDbXref "PMID:29878199" @default.
- B037e4aba6ee51b80149999e32c2e7446 hasDbXref "https://orcid.org/0000-0001-9969-8610" @default.
- B037e4aba6ee51b80149999e32c2e7446 type Axiom @default.
- B037e4aba6ee51b80149999e32c2e7446 annotatedProperty IAO_0000115 @default.
- B037e4aba6ee51b80149999e32c2e7446 annotatedSource MONDO_0100068 @default.
- B037e4aba6ee51b80149999e32c2e7446 annotatedTarget "SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen." @default.