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Updated: Jan 13, 2026

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对NPR2变体的功能分析支持了对矮身人群中CNP的治疗理由

Raehoon Jeong1, Sergio Covarrubias1, Devanshi Shanghavi1

  • 1Research and Early Development, BioMarin Pharmaceutical Inc., San Rafael, CA 94901, USA.

American journal of human genetics
|January 9, 2026
PubMed
概括

尿素受体2 (NPR2) 活性影响人类的身高. 这项研究量化了NPR2变体的影响,揭示了NPR2活动和身高之间的直接相关性,表明了矮身的治疗潜力.

关键词:
这是一种C型天然尿素.在 CNP CNP 中.在NPR2中,NPR2是NPR2.这就是VUS VUS VUS.这种疾病叫做Achondroplasia.功能活动/测试.遗传学 遗传学 遗传学 遗传学 是一个高度 高度 高度 高度高吞吐量,具有高吞吐量.错误的意义 变体 变体纳利基受体 B 类受体矮身高 矮身高的人变种的表征 变种的表征不知意义的变种.

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