A novel structural variant of RET causes familial Hirschsprung's disease via nonsense-mediated mRNA decay
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Genetics (clinical),Molecular Biology,Biochemistry
Reference5 articles.
1. Advances in paediatric gastroenterology;Tam;Lancet,2017
2. Enhancer variants synergistically drive dysfunction of a gene regulatory network in Hirschsprung disease;Chatterjee;Cell,2016
3. Molecular genetic anatomy and risk profile of Hirschsprung's disease;Tilghman;N Engl J Med,2019
4. UPFront and center in RNA decay: UPF1 in nonsense-mediated mRNA decay and beyond;Kim;RNA,2019
5. Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung's disease;Kawano;Pediatr Surg Int,2017
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