RET c.2730+257C>T

Variant ID: 10-43615908-C-T

NM_020975.4(RET):c.2730+257C>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease.

Aging
Wang, Yang Y; Jiang, Qian Q; Cai, Hao H; Xu, Ze Z; Wu, Wenjie W; Gu, Beilin B; Li, Long L; Cai, Wei W
Publication Date: 2020-03-06

Variant appearance in text: rs2435353
PubMed Link: 32139661
Variant Present in the following documents:
  • Main text
  • aging-12-102891.pdf
View BVdb publication page



Determination of RET Sequence Variation in an MEN2 Unaffected Cohort Using Multiple-Sample Pooling and Next-Generation Sequencing.

Journal Of Thyroid Research
Margraf, R L RL; Durtschi, J D JD; Stephens, J E JE; Perez, M M; Voelkerding, K V KV
Publication Date: 2012

Variant appearance in text: RET: 2730+257C>T
PubMed Link: 22545224
Variant Present in the following documents:
  • Main text
  • JTR2012-318232.pdf
View BVdb publication page



Variant identification in multi-sample pools by illumina genome analyzer sequencing.

Journal Of Biomolecular Techniques : Jbt
Margraf, Rebecca L RL; Durtschi, Jacob D JD; Dames, Shale S; Pattison, David C DC; Stephens, Jack E JE; Voelkerding, Karl V KV
Publication Date: 2011-07

Variant appearance in text: RET: 2730+257C>T
PubMed Link: 21738440
Variant Present in the following documents:
  • Main text
View BVdb publication page