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: 151C>A

PubMed Link: 34358225

Variant Present in the following documents:

• Main text

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: RET: 151C>A; L51M

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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