p.Trp497*
p.Trp497* · SaudiVarKB evidence summary derived from retained literature mentions.
1Variant mentions
1Publications
1Associated gene records
1Associated phenotype records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| FKBP10 | HGNC:18169 | 1 | 1 |
Associated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| osteogenesis imperfecta | — | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Population record | — | 1 | 1 |
Supporting publications
1 records- 2016Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.Journal of human geneticsPubMed ↗