Valerio Marino1, Wanchana Phromkrasae2, Michele Bertacchi2

  • 1Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, Verona, Italy.

概括

结构生物信息学和遗传代码扩展揭示了NR2F1基因变异如何导致Bosch-Boonstra-Schaaf光缩综合征 (BBSOAS). 这项研究揭示了与疾病谱系相关的受损蛋白相互作用和细胞变化.

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