dataset related to article: "Severe epilepsy in CNTNAP2 related Pitt Hopkins like syndrome successfully treated with stiripentol"

Name: dataset related to article: "Severe epilepsy in CNTNAP2 related Pitt Hopkins like syndrome successfully treated with stiripentol"
Creator: Di Francesco, Jacopo; D'Arrigo, Stefano; Gellera, Cinzia; Canafoglia, Laura; Messina, Giuliana; Granata, Tiziana; Castellotti, Barbara; Ragona, Francesca; Freri, Elena Maria; Magri, Stefania; Vannicola, Chiara; Solazzi, Roberta
Published: 2021-09-06T00:00:00+08:00

Zenodo2021-09-06 更新2026-04-07 收录

遗传病基因诊断

癫痫精准治疗

数据链接：

https://zenodo.org/record/5469382 数据链接链接失效反馈

官方服务：

资源简介：

Dataset contains Sanger Sequencing Analysis: <strong>.ab1</strong> (H1235 CNTNAP2 ex22F.ab1, H1235 CNTNAP2 ex22R.ab1) NGS analysis: <strong>.vcf</strong> (H1235)

提供机构：

Di Francesco, Jacopo; D'Arrigo, Stefano; Gellera, Cinzia; Canafoglia, Laura; Messina, Giuliana; Granata, Tiziana; Castellotti, Barbara; Ragona, Francesca; Freri, Elena Maria; Magri, Stefania; Vannicola, Chiara; Solazzi, Roberta

创建时间：

2021-09-06