Associated Papers
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families.
Skoczylas S et al.
Neurogenetics, 2023
De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation.
Halvorsen M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
34930847 (PubMed )
Supplement: pnas.2115140118.sd08.xlsx › Dataset_S8
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
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