RET c.74-11491C>T

Variant ID: 10-43584416-C-T

NM_020975.4(RET):c.74-11491C>T

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease.

Genome Research
Chatterjee, Sumantra S; Karasaki, Kameko M KM; Fries, Lauren E LE; Kapoor, Ashish A; Chakravarti, Aravinda A
Publication Date: 2021-11-15

Variant appearance in text: rs2506022
PubMed Link: 34782358
Variant Present in the following documents:
  • 2199.pdf
View BVdb publication page



Identifying candidate Hirschsprung disease-associated RET variants.

American Journal Of Human Genetics
Burzynski, Grzegorz M GM; Nolte, Ilja M IM; Bronda, Agnes A; Bos, Krista K KK; Osinga, Jan J; Plaza Menacho, Ivan I; Twigt, Bas B; Maas, Saskia S; Brooks, Alice S AS; Verheij, Joke B G M JB; Buys, Charles H C M CH; Hofstra, Robert M W RM
Publication Date: 2005-05

Variant appearance in text: rs2506022
PubMed Link: 15759212
Variant Present in the following documents:
  • Main text
View BVdb publication page