Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
出版年份 2019 全文链接
标题
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
作者
关键词
Variant interpretation, Mendelian genetics, Hypertrophic cardiomyopathy, ACMG/AMP guidelines
出版物
Genome Medicine
Volume 11, Issue 1, Pages -
出版商
Springer Nature
发表日期
2019-01-29
DOI
10.1186/s13073-019-0616-z
参考文献
相关参考文献
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