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Germline Mosaicism of a Missense Variant in KCNC2 in a Multiplex Family with Autism and Epilepsy Characterized by Long‐read Sequencing

Elvisa Mehinovic,Teddi Gray,Meghan Campbell,Jenny Ekholm,Aaron Wenger,William Rowell, Ari Grudo,Jane Grimwood,Jonas Korlach,Christina Gurnett,John N. Constantino,Tychele N. Turner

American Journal of Medical Genetics Part A（2022）

引用 4|浏览35
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关键词
autism,channel,epilepsy,genetics,genomics,long-read sequencing
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