p.Arg987Ter
p.Arg987Ter · SaudiVarKB evidence summary derived from retained literature mentions.
1Variant mentions
1Publications
9Associated gene records
3Associated phenotype records
Associated gene records
Co-mentioned in the same publicationsAssociated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| sickle cell disease | HP:0001878 · 603903 | 1 | 1 |
| familial hypercholesterolemia | HP:0003124 · 143890 | 1 | 1 |
| stroke | — | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | Cohort 22 | 1 | 1 |
Supporting publications
1 records- 2018Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease.Genetic testing and molecular biomarkersPubMed ↗