p.Pro387Leu
p.Pro387Leu · 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 |
|---|---|---|---|
| SLC18A2 | HGNC:10935 | 1 | 1 |
Associated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| developmental delay | HP:0001263 | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Population record | Cohort 42 | 1 | 1 |
Supporting publications
1 records- 2023Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions