RET c.3040-700C>T

Variant ID: 10-43621323-C-T

NM_020975.4(RET):c.3040-700C>T

This variant was identified in 2 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: rs2742237
PubMed Link: 31423333
Variant Present in the following documents:
  • esmoopen-2018-000472supp001.pdf
View BVdb publication page



Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.

Plos One
Cornes, Belinda K BK; Tang, Clara S CS; Leon, Thomas Y Y TY; Hui, Kenneth J W S KJ; So, Man-Ting MT; Miao, Xiaoping X; Cherny, Stacey S SS; Sham, Pak C PC; Tam, Paul K H PK; Garcia-Barcelo, Maria-Merce MM
Publication Date: 2010-06-02

Variant appearance in text: rs2742237
PubMed Link: 20532249
Variant Present in the following documents:
  • Main text
  • pone.0010918.pdf
View BVdb publication page