RET c.409T>G ;(p.C137G)

Variant ID: 10-43597861-T-G

NM_020975.4(RET):c.409T>G;(p.C137G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The advances of genetics research on Hirschsprung's disease.

Pediatric Investigation
Ke, Juntao J; Zhu, Ying Y; Miao, Xiaoping X
Publication Date: 2018-09

Variant appearance in text: RET: 409T>G; C137G
PubMed Link: 32851260
Variant Present in the following documents:
  • Main text
  • PED4-2-189.pdf
View BVdb publication page



Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.

Genome Biology
Gui, Hongsheng H; Schriemer, Duco D; Cheng, William W WW; Chauhan, Rajendra K RK; Antiňolo, Guillermo G; Berrios, Courtney C; Bleda, Marta M; Brooks, Alice S AS; Brouwer, Rutger W W RW; Burns, Alan J AJ; Cherny, Stacey S SS; Dopazo, Joaquin J; Eggen, Bart J L BJ; Griseri, Paola P; Jalloh, Binta B; Le, Thuy-Linh TL; Lui, Vincent C H VC; Luzón-Toro, Berta B; Matera, Ivana I; Ngan, Elly S W ES; Pelet, Anna A; Ruiz-Ferrer, Macarena M; Sham, Pak C PC; Shepherd, Iain T IT; So, Man-Ting MT; Sribudiani, Yunia Y; Tang, Clara S M CS; van den Hout, Mirjam C G N MC; van der Linde, Herma C HC; van Ham, Tjakko J TJ; van IJcken, Wilfred F J WF; Verheij, Joke B G M JB; Amiel, Jeanne J; Borrego, Salud S; Ceccherini, Isabella I; Chakravarti, Aravinda A; Lyonnet, Stanislas S; Tam, Paul K H PK; Garcia-Barceló, Maria-Mercè MM; Hofstra, Robert M W RM
Publication Date: 2017-03-08

Variant appearance in text: RET: C137G
PubMed Link: 28274275
Variant Present in the following documents:
  • Main text
  • 13059_2017_Article_1174.pdf
View BVdb publication page