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22. A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. Smedley D; Schubach M; Jacobsen JOB; Köhler S; Zemojtel T; Spielmann M; Jäger M; Hochheiser H; Washington NL; McMurry JA; Haendel MA; Mungall CJ; Lewis SE; Groza T; Valentini G; Robinson PN Am J Hum Genet; 2016 Sep; 99(3):595-606. PubMed ID: 27569544 [TBL] [Abstract][Full Text] [Related]
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