Article

Resolving the Functional Significance of <i>BRCA1</i> RING Domain Missense Substitutions

2016-12-08

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Part 1</h4> Development and calibration of suitably accurate functional assays for BRCA1 RING domain and BRCT domain missense substitutions could dramatically accelerate clinical classification of rare missense substitutions observed in that gene. Leveraging data from 68,000 full sequence tests of BRCA1 and BRCA2 , plus data from the limited number of already classified BRCA1 RING domai...

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Literature Corpus work: 41428be0-1d00-5151-9c62-389e90300ac6
DOI: 10.1101/092619

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