ALICA GOLDMAN to Mutation, Missense
This is a "connection" page, showing publications ALICA GOLDMAN has written about Mutation, Missense.
Connection Strength
0.061
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De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Cold Spring Harb Mol Case Stud. 2019 06; 5(3).
Score: 0.027
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Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy. Neurology. 2013 Mar 19; 80(12):1078-85.
Score: 0.018
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Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell. 2011 Jun 24; 145(7):1036-48.
Score: 0.016