p.Leu62*
p.Leu62* · 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 |
|---|---|---|---|
| ENTPD1 | HGNC:3363 | 1 | 1 |
Associated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 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 27 | 1 | 1 |