p.Y20H
p.Y20H · 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 |
|---|---|---|---|
| TFRC | HGNC:11763 | 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 publicationsNo retained population associations.
Supporting publications
1 records- 2020Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients.Journal of clinical immunologyPubMed ↗