Associated Papers
Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants.
Dsouza NR et al.
International Journal of Molecular Sciences, 2024
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Cousin MA et al.
Genome Medicine, 2022
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.
Oliver GR et al.
Plos One, 2019
31577830 (PubMed )
Supplement: pone.0223337.s002.xlsx › SuppTable2_Variants_of_interest
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