List of works - Sarah E. Brnich - Paulina

List of works by Sarah E. Brnich

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease

scientific article published on 10 July 2018

Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks

article

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

scientific article published on 31 December 2019

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