RET c.73+1813T>C

Variant ID: 10-43574592-T-C

NM_020975.4(RET):c.73+1813T>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Susceptible loci associated with autoimmune disease as potential biomarkers for checkpoint inhibitor-induced immune-related adverse events.

Esmo Open
Hoefsmit, Esmée P EP; Rozeman, Elisa A EA; Haanen, John B A G JBAG; Blank, Christian U CU
Publication Date: 2019

Variant appearance in text: rs2435365
PubMed Link: 31423333
Variant Present in the following documents:
  • esmoopen-2018-000472supp001.pdf
View BVdb publication page



DeFine: deep convolutional neural networks accurately quantify intensities of transcription factor-DNA binding and facilitate evaluation of functional non-coding variants.

Nucleic Acids Research
Wang, Meng M; Tai, Cheng C; E, Weinan W; Wei, Liping L
Publication Date: 2018-06-20

Variant appearance in text: rs2435365
PubMed Link: 29617928
Variant Present in the following documents:
  • gky215_supplemental_files.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: rs2435365
PubMed Link: 15759212
Variant Present in the following documents:
  • Main text
View BVdb publication page