Whole genome sequencing reveals epistasis effects within RET for Hirschsprung disease

Common variants in RET and NRG1 have been associated with Hirschsprung disease (HSCR), a congenital disorder characterised by incomplete innervation of distal gut, in East Asian (EA) populations. However, the allelic effects so far identified do not fully explain its heritability, suggesting the pre...

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Detalles Bibliográficos
Autores principales: Wang, Yanbing, Mak, Timothy Shin Heng, Dattani, Saloni, Garcia-Barcelo, Maria-Merce, Fu, Alexander Xi, Yip, Kevin Y., Ngan, Elly Sau-Wai, Tam, Paul Kwang-Hang, Tang, Clara Sze-Man, Sham, Pak Chung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9705416/
https://www.ncbi.nlm.nih.gov/pubmed/36443333
http://dx.doi.org/10.1038/s41598-022-24077-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9705416/
https://www.ncbi.nlm.nih.gov/pubmed/36443333
http://dx.doi.org/10.1038/s41598-022-24077-w

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