Associated Papers
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.
Qebibo L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Electrophysiological classification of CACNA1G gene variants associated with neurodevelopmental and neurological disorders.
Davakan A et al.
Frontiers in Pharmacology, 2025
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