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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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