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致病性异性TRPM7变体和低磁性血症与发育迟缓

Willem Bosman1, Kameryn M Butler2, Caitlin A Chang3

  • 1Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands.

Clinical kidney journal
|August 5, 2024
PubMed
概括

短暂受体潜能梅拉斯塔丁7型 (TRPM7) 的异合体变异与低磁性血症和发育障碍有关. 这项研究确定了与这些疾病相关的新TRPM7变异,扩大了已知的表型.

关键词:
TRPM7 TRPM7 是一个很好的方法.自闭症谱系障碍 自闭症谱系障碍发育延迟的发展延迟.遗传学 遗传学 遗传学 是一个低磁性血症 (hypomagnesemia) 是一种

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