c.1701A>C
c.1701A>C · 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 |
|---|---|---|---|
| PHEX | HGNC:8918 | 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- 2022A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia.The Journal of clinical endocrinology and metabolismPubMed ↗