Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

出版年份 2018 全文链接

标题

作者

关键词

dominant negative, antimorphic, nonsense-mediated decay, frameshift alleles, stopgain variants, NMDEscPredictor, NMD escape intolerance scores, WES analysis, bioinformatic tool, genotype-phenotype correlations

出版物

AMERICAN JOURNAL OF HUMAN GENETICS

Volume -, Issue -, Pages -

出版商

Elsevier BV

发表日期

2018-07-20

DOI

10.1016/j.ajhg.2018.06.009

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