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Differences in SCN1A intronic variants result in diverse aberrant splicing patterns and are related to the phenotypes of epilepsy with febrile seizures

Autor: Xijing Zhou, Wei-Ping Liao, Haiqing Xu, Bin Tang, Lu Yu, Jinou Zheng, Xiao-Rong Liu, Yi-Wu Shi, Xiuqu Cai

Publikováno v: Epilepsy research. 176

Objective Intronic variants of the SCN1A gene are detected in patients with epilepsy with febrile seizures (EFS), which includes a series of phenotypes with different severities. However, the pathogenicity of intronic variants and their genotype-phen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d37319b5afc3a941ec96b35426bf1dec
https://pubmed.ncbi.nlm.nih.gov/34293681

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Oral lichen planus

Autor: P. B. Sugerman, Neil W. Savage, Xijing Zhou, Michael Bigby, Laurence J. Walsh

Publikováno v: Clinics in dermatology. 18(5)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8747e0dccedc854562a155a239cbc3f
https://pubmed.ncbi.nlm.nih.gov/11134848

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