An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants

被引：88

作者：

Kleinberger, Jeffrey ^{[1
]}

Maloney, Kristin A. ^{[1
]}

Pollin, Toni I. ^{[1
]}

Jeng, Linda Jo Bone ^{[1
]}

机构：

[1] Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr,Program Personalized, Baltimore, MD 21201 USA

来源：

GENETICS IN MEDICINE | 2016年 / 18卷 / 11期

关键词：

D O I：

10.1038/gim.2016.13

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1165 / 1165

页数：1

共 2 条

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[2] Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology [J].

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