Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology

IF 7.5 2区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Journal of Translational Medicine Pub Date : 2019-10-01 DOI:10.1186/s12967-019-2080-3
V. Frecer, G. Iarossi, A. Salvetti, P. Maltese, Giulia Delledonne, M. Oldani, G. Staurenghi, B. Falsini, A. Minnella, L. Ziccardi, A. Magli, L. Colombo, F. D’Esposito, J. Miertuš, F. Viola, M. Attanasio, E. Maggio, M. Bertelli
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通过计算结构生物学评估意大利最佳卵黄样黄斑营养不良患者中鉴定的新的BEST1变异的致病性
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来源期刊
Journal of Translational Medicine
Journal of Translational Medicine 医学-医学:研究与实验
CiteScore
10.00
自引率
1.40%
发文量
537
审稿时长
1 months
期刊介绍: The Journal of Translational Medicine is an open-access journal that publishes articles focusing on information derived from human experimentation to enhance communication between basic and clinical science. It covers all areas of translational medicine.
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