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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 08/2018, Volume 115, Issue 34, pp. E8007 - E8016
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 319 - 329
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 06/2019, Volume 62, Issue 6, pp. 103530 - 103530
The gene encodes a calcium-dependent voltage channel, localized in neuronal cells. Pathogenic variants in this gene are known to lead to a broad clinical... 
Epileptic encephalopathy | CACNA1A | Ataxia | Genetic counselling | Incomplete penetrance | Pedigree | Humans | Spinocerebellar Degenerations - pathology | Adult | Female | Male | Penetrance | Aged | Mutation, Missense | Spinocerebellar Degenerations - genetics | Calcium Channels - genetics | Child | Index Medicus | Life Sciences | Genetics | Human genetics
Journal Article
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 05/2019, Volume 40, Issue 3, pp. 259 - 266
Purpose: Cone-rod dystrophy (CRD) is an inherited retinal dystrophy that is transmitted via different modes of inheritance. Mutations in more than 30 genes... 
incomplete penetrance | autosomal recessive inheritance pattern | Cone-rod dystrophy | CRX gene | GENETICS & HEREDITY | OPHTHALMOLOGY | MUTATIONS | HOMEOBOX GENE | ABCA4 GENE
Journal Article
Journal Article