Associated Papers
Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.
Yao R et al.
Frontiers in Genetics, 2021
34992632 (PubMed )
Supplement: Table3.XLSX › Sheet1
Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy.
Wengert ER et al.
Epilepsia, 2019
Codon-level co-occurrences of germline variants and somatic mutations in cancer are rare but often lead to incorrect variant annotation and underestimated impact prediction.
Koire A et al.
Plos One, 2017
28350864 (PubMed )
Supplement: pone.0174766.s004.xlsx › Sheet1
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