KCNT2a
收藏NIAID Data Ecosystem2026-03-11 收录
下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP234916
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资源简介：
We then searched additional KCNT2 variants in our in-house WES database of a cohort of more than 200 patients with early onset epileptic encephalopathy (EOEE). We found a de novo frameshift variant p.L48Qfs43 (NM_198503.2:c.143-144 delTA) in KCNT2 in an EOEE patient (Patient B) and validated the variant by Sanger sequencing
创建时间：
2019-12-08
