GeneticsJournal of Pediatric SurgeryPeer-reviewed
Multiple, independent, common variants overlapping known and putative gut enhancers at RET, SEMA3 and NRG1 underlie Hirschsprung disease risk in European ancestry subjects
Ashish Kapoor, Priyanka Nandakumar, Dallas R. Auer…·Aravinda Chakravarti
The paper identifies common noncoding variants at RET, SEMA3, and NRG1 loci associated with Hirschsprung disease risk in European ancestry individuals, showing cumulative effects on gene expression.
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