IVS32
IVS32 · SaudiVarKB evidence summary derived from retained literature mentions.
1Variant mentions
1Publications
1Associated gene records
3Associated phenotype records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| AGL | HGNC:321 | 1 | 1 |
Associated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| cardiomyopathy | HP:0001638 | 1 | 1 |
| congenital myopathy | — | 1 | 1 |
| glycogen storage disease | HP:0003542 | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia · Madinah | Cohort 3 | 1 | 1 |
Supporting publications
1 records- 2014A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.Annals of Saudi medicine1 mentions