Publications:

Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.

Plos Genetics

Kuil, Laura E LE; MacKenzie, Katherine C KC; Tang, Clara S CS; Windster, Jonathan D JD; Le, Thuy Linh TL; Karim, Anwarul A; de Graaf, Bianca M BM; van der Helm, Robert R; van Bever, Yolande Y; Sloots, Cornelius E J CEJ; Meeussen, Conny C; Tibboel, Dick D; de Klein, Annelies A; Wijnen, René M H RMH; Amiel, Jeanne J; Lyonnet, Stanislas S; Garcia-Barcelo, Maria-Mercè MM; Tam, Paul K H PKH; Alves, Maria M MM; Brooks, Alice S AS; Hofstra, Robert M W RMW; Brosens, Erwin E

Publication Date: 2021-08

Variant appearance in text: RET: 3173A>G

PubMed Link: 34358225

Variant Present in the following documents:

• Main text
• pgen.1009698.pdf

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