Associated Papers
Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation.
Tang X et al.
European Journal of Human Genetics : Ejhg, 2024
38553610 (PubMed )
Supplement: 41431_2024_1594_MOESM7_ESM.xlsx › gnomAD_score4.5_cout1
Human Genetics of Ventricular Septal Defect.
Perrot A et al.
Advances in Experimental Medicine and Biology, 2024
Pathophysiology of Cav1.3 L-type calcium channels in the heart.
Zaveri S et al.
Frontiers in Physiology, 2023
Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy.
Rinné S et al.
International Journal of Molecular Sciences, 2022
Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.
Lang GT et al.
Nature Communications, 2020
33173047 (PubMed )
Supplement: 41467_2020_19342_MOESM7_ESM.xlsx › PGI_fudan_NC_clnical.oc
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.
Izarzugaza JMG et al.
Genome Medicine, 2020
32859249 (PubMed )
Supplement: 13073_2020_772_MOESM1_ESM.pdf
Channelopathies of voltage-gated L-type Cav1.3/α1D and T-type Cav3.1/α1G Ca2+ channels in dysfunction of heart automaticity.
Torrente AG et al.
Pflugers Archiv : European Journal of Physiology, 2020
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.
Liaqat K et al.
Journal of Human Genetics, 2019
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