Associated Papers
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM7_ESM.xlsx › Supplementary_Data_4
Genotype and phenotype relationships for mutations in the ryanodine receptor in patients referred for diagnosis of malignant hyperthermia.
Fletcher JE et al.
British Journal of Anaesthesia, 1995
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