Yazar "Jhangiani, Shalini N." için Sağlık Bilimleri Enstitüsü listeleme
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Paine, Ingrid; Posey, Jennifer E.; Grochowski, Christopher M.; Jhangiani, Shalini N.; Rosenheck, Sarah; Kleyner, Robert; Lupski, James R. (Cell Press, 2019)Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human disease. Recent studies have elucidated DHX30 and DDX3X as genes for ...