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Updated: May 21, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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ALPL基因变异项目:首批100个重新分类变异的结果

Mariam R Farman1, Theodora Malli2, Catherine Rehder3

  • 1Department of Pediatrics and Adolescent Medicine, Johannes Kepler University Linz, Krankenhausstrasse 26-30, 4020 Linz, Austria.

JBMR plus
|May 19, 2025
PubMed
概括

通过重新分类具有不确定的意义的100种ALPL基因变异来改善低酸性 (HPP) 诊断. 功能测试澄清了变体的致病性,有助于遗传咨询和更快的HPP诊断.

关键词:
在ACMG中,ACMG就是ACMG.性酸酶是一种性性酸酶.低酸盐症 (hypophosphatasia) 是一种重新分类的重新分类是什么拉基茨 (Rickets) 是一种精神疾病.维生素B6 维生素B6 是一种维生素.

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