V144M
V144M · SaudiVarKB evidence summary derived from retained literature mentions.
1Variant mentions
1Publications
2Associated gene records
1Associated phenotype records
Associated gene records
Co-mentioned in the same publicationsAssociated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 1 | 1 |
Associated population records
Co-mentioned in the same publicationsNo retained population associations.
Supporting publications
1 records- 2019Formation of tRNA Wobble Inosine in Humans Is Disrupted by a Millennia-Old Mutation Causing Intellectual Disability.Molecular and cellular biologyPubMed ↗