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Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsio
[期刊论文] 作者：Yulan Chen,Dianfu Chen,Shaoyun Zhao,Gonglu Liu,Hongfu Li,Zhi-Ying Wu,
来源：医学前沿 年份：2021
Proline-rich transmembrane protein 2(PRRT2)is the leading cause of paroxysmal kinesigenic dyskinesia(PKD),benign familial infantile epilepsy(BFIE),and infantile convulsions with choreoathetosis(ICCA).Reduced penetrance of PRRT2 has been obs......
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