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_MOESM10_ESM.xlsx › rank2023
Germline de novo variant F747S extends the phenotypic spectrum of CACNA1D Ca2+ channelopathies.
Török F et al.
Human Molecular Genetics, 2023
CACNA1D-Related Channelopathies: From Hypertension to Autism.
Ortner NJ
Handbook of Experimental Pharmacology, 2023
Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review.
Alzahrani A et al.
Frontiers in Neurology, 2023
Unravelling the Genetic Basis of Primary Aldosteronism.
Mourtzi N et al.
Nutrients, 2021
A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia.
De Mingo Alemany MC et al.
Channels (austin, Tex.), 2020
Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder.
Hofer NT et al.
Molecular Autism, 2020
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