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Updated: Jun 8, 2025

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CASRdb:与疾病相关的感应受体变体的公开可访问的全面数据库

Nipith Charoenngam1, Phuuwadith Wattanachayakul2, Michael Mannstadt1

  • 1Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.

The Journal of clinical endocrinology and metabolism
|November 1, 2024
PubMed
概括

一个新的数据库,CASRdb,列出了498种引起疾病的感受受体 (CASR) 基因变异,有助于诊断家族性低血性高血症I型 (FHH1) 和自身主导性低血症I型 (ADH1). 这种全面的资源增强了对代谢障碍的基因测试.

关键词:
在ADH1中,ADH1是ADH1.巴特特综合征第五型V型在CASR中,CASR就是CASR.FHH1 FHH1 的意思是1型自体主导性低血症感应的受体是感应的受体.家庭性低性高血症1型新生儿严重的副甲状腺功能障碍.

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