p.Arg25Gln
p.Arg25Gln · 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 |
|---|---|---|---|
| DNAJB4 | HGNC:14886 | 1 | 1 |
Associated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| congenital myopathy | — | 1 | 1 |
Associated population records
Co-mentioned in the same publicationsNo retained population associations.
Supporting publications
1 records- 2023Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.Acta neuropathologica1 mentions