EXT1
HGNC:3512 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
0Linked variants
0Associated phenotypes
Associated phenotypes
Co-mentioned in EXT1 publications| Phenotype | Identifier | Articles | Mentions |
|---|
No retained phenotype associations.
Linked variants
Variants normalized to EXT1| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | 22 | 1 |
Supporting publications
2 records- 2023Venous malformation may be a feature of EXT1-related hereditary multiple exostoses: A report of two unrelated probands.American journal of medical genetics. Part APubMed ↗
- 2021Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.Orphanet journal of rare diseasesPubMed ↗