Associated Papers
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
36430690 (PubMed )
Supplement: ijms-23-14215-s001.zip › ijms-1958047-supplementary.pdf
Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.
Kara B et al.
European Journal of Human Genetics : Ejhg, 2017
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