致病性
情感(语言学)
口译(哲学)
计算机科学
计算生物学
医学
生物
心理学
沟通
程序设计语言
微生物学
作者
K L Wu,K L Wu,K L Wu,K L Wu
出处
期刊:PubMed
日期:2024-05-07
卷期号:59 (5): 455-463
标识
DOI:10.3760/cma.j.cn115330-20231129-00254
摘要
To compare the differences between the variation interpretation standards and guidelines issued by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) in 2015 (The 2015ACMG/AMP guideline) and the Deafness Specialist Group of the Clinical Genome Resource (ClinGen) in 2018 for hereditary hearing loss (Healing loss, HL) issued the expert specification of the variation interpretation guide (The 2018 HL-EP guideline) in evaluating the pathogenicity of
科研通智能强力驱动
Strongly Powered by AbleSci AI