EDWARD COOPER to Gain of Function Mutation
This is a "connection" page, showing publications EDWARD COOPER has written about Gain of Function Mutation.
Connection Strength
0.257
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Autism and developmental disability caused by KCNQ3 gain-of-function variants. Ann Neurol. 2019 08; 86(2):181-192.
Score: 0.156
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Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment. Neurotherapeutics. 2024 Jan; 21(1):e00296.
Score: 0.053
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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: 0.048