CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome Phenotype
The CACNA1C gene encodes for the Cav1.2 voltage-gated calcium channel. De novo genetic variation in this gene is associated with Timothy syndrome (long QT syndrome type 8) and a wide range of other cardiac phenotypes. This wide phenotypic variability informs the need to study the contribution of CAC...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-07-01
|
| Series: | JACC: Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666084925006321 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|