Published September 6, 2021
| Version v1
Dataset
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dataset related to article: "Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy"
Authors/Creators
- 1. Fondazione IRCCS Istituto Neurologico Carlo Besta
Description
dataset contains Sanger Sequencing Analysis: .ab1 (S2939-SCN8A-10F.ab1, S2939-SCN8A-10R.ab1)
NGS analysis: .vcf (S2939)
Notes
Study supported by italian ministry of healt: Ricerca Corrente - LR2: Basi molecolari delle epilessie su base genetica: sviluppo di una piattaforma analitica genetica di nuova generazione per l'ottimizzazione dei processi di diagnosi e per l'identificazione di nuovi geni malattia e di terapie personalizzate
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Additional details
Related works
- Is supplement to
- Journal article: 10.1684/epd.2021.1305 (DOI)