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

Title
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles
Authors
Keywords
dominant negative, antimorphic, nonsense-mediated decay, frameshift alleles, stopgain variants, NMDEscPredictor, NMD escape intolerance scores, WES analysis, bioinformatic tool, genotype-phenotype correlations
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
Publisher
Elsevier BV
Online
2018-07-20
DOI
10.1016/j.ajhg.2018.06.009

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