JAMES LUPSKI to Enhancer Elements, Genetic
This is a "connection" page, showing publications JAMES LUPSKI has written about Enhancer Elements, Genetic.
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0.215
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Identification of the first recurrent PAR1 deletion in L?ri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. J Med Genet. 2012 Jul; 49(7):442-50.
Score: 0.083
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A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo. PLoS One. 2010 Dec 16; 5(12):e14346.
Score: 0.075
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SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway. Hum Mol Genet. 2007 May 15; 16(10):1143-56.
Score: 0.058