-2A>G
-2A>G · 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 |
|---|---|---|---|
| CASR | HGNC:1514 | 1 | 1 |
Associated phenotype records
Co-mentioned in the same publicationsNo retained phenotype associations.
Associated population records
Co-mentioned in the same publicationsNo retained population associations.
Supporting publications
1 records- 2017Neonatal severe hyperparathyroidism secondary to a novel homozygous CASR gene mutation.Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal DiseasesPubMed ↗