p.Asn248Phe
p.Asn248Phe · SaudiVarKB evidence summary derived from retained literature mentions.
1Variant mentions
1Publications
2Associated gene records
2Associated phenotype records
Associated gene records
Co-mentioned in the same publicationsAssociated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| developmental delay | HP:0001263 | 1 | 1 |
| neurodevelopmental disorder | HP:0012759 | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Population record | Cohort 4 | 1 | 1 |
Supporting publications
1 records- 2023Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.Genetics in medicine : official journal of the American College of Medical GeneticsPubMed ↗