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Eric Minikel
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Works
7
Analysis of protein-coding genetic variation in 60,706 humans
scientific article (publication date: 17 August 2016)
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
preprint published 25 September 2016
Strictly co-isogenic C57BL/6J-Prnp-/- mice: A rigorous resource for prion science
scientific article published on 29 February 2016
Using high-resolution variant frequencies to empower clinical genome interpretation
article published in 2016
ClinVar data parsing
scientific article
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome
scientific article published on 23 February 2017
Strictly co-isogenic C57BL/6J-Prnp โ/โ mice: A rigorous resource for prion science
scientific article published in March 2016
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