JAMES RIVIELLO JR. to Gain of Function Mutation
This is a "connection" page, showing publications JAMES RIVIELLO JR. has written about Gain of Function Mutation.
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0.097
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KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine. Ann Clin Transl Neurol. 2023 04; 10(4):656-663.
Score: 0.049
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KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism. EBioMedicine. 2022 Jul; 81:104130.
Score: 0.047