p.Ala277Val
p.Ala277Val · SaudiVarKB evidence summary derived from retained literature mentions.
1Variant mentions
1Publications
1Associated gene records
0Associated phenotype records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| CTSK | HGNC:2536 | 1 | 1 |
Associated phenotype records
Co-mentioned in the same publicationsNo retained phenotype associations.
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | Cohort 18 | 1 | 1 |
Supporting publications
1 records- 2021The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.American journal of medical genetics. Part APubMed ↗