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[Genetics Analysis of patients with Dravet syndrome due to mosaicism variation of paternal SCN1A gene].

Zhonghua yi xue za zhi - 27 Apr 2021

Huo M Z, Niu W B, Xu J W, Shi H, Liu Y D, Zhang Y L

Abstract excerpt

Genetic analysis was performed on a family of fraternal twins affected with Dravet syndrome by genetic tests whose parents were normal. To further analyze the cause of the disease, the fraternal twins were subjected to whole exome sequencing (WES), and the family was verified by Sanger sequencing, with the father semen and peripheral blood DNA were further analysed by target sequencing. The WES test identified a...

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Identifiers

PMID: 33902251
DOI: 10.3760/cma.j.cn112137-20201225-03468

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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