A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders
Author:
Affiliation:
1. Quest Diagnostics Athena Diagnostics Marlborough Massachusetts
2. Quest Diagnostics, Nichols Institute San Juan Capistrano California
3. Quest Diagnostics Celera Alameda California
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22918
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