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Timothy syndrome type 1
- ... arrhythmia and autism. Cell. 2004 Oct 1;119(1):19-31. doi: 10.1016/j.cell.2004.09.011. Citation on PubMed
- ... alpha 1C subunit CaV1.2 CCHL1A1 DHPR, alpha-1 subunit MGC120730 voltage-dependent L-type calcium channel alpha 1C subunit voltage-gated calcium channel alpha subunit Cav1.2 ... NCBI Gene ClinVar Bozarth X, Dines ...
- ... Marec H, Bennett V. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia ... V. A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc ...