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Updated: Jul 12, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Published on: August 21, 2016

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全球ALPL基因变异分类项目:致力于解密变异.

Mariam R Farman1, Catherine Rehder2, Theodora Malli3

  • 1Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.

Bone
|October 28, 2023
PubMed
概括

这项研究重新分类了ALPL基因中不确定的意义的变异,改善了低酸性病 (HPP) 的遗传诊断. ALPL基因变异数据库有助于理解HPP遗传和表型谱,以更好地照顾患者.

关键词:
在ACMG中,ACMG就是ACMG.性酸酶是一种性酸酶.低酸盐症 (hypophosphatasia) 是一种低酸盐症.重新分类重新分类重新分类维生素B6 维生素B6 是一种维生素.

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