p.H262Tfs
p.H262Tfs · SaudiVarKB evidence summary derived from retained literature mentions.
1Variant mentions
1Publications
1Associated gene records
2Associated phenotype records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| IDUA | HGNC:5391 | 1 | 1 |
Associated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| inborn error of metabolism | HP:0001939 | 1 | 1 |
| mucopolysaccharidosis | HP:0008155 | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Population record | Cohort 12 | 1 | 1 |
Supporting publications
1 records- 2019Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.Journal of pediatric endocrinology & metabolism : JPEM1 mentions