RET c.3188-627T>C

Variant ID: 10-43622933-T-C

NM_020975.4(RET):c.3188-627T>C

This variant was identified in 9 publications

View GRCh38 version.




Publications:


The Role of Genetic Polymorphisms in Differentiated Thyroid Cancer: A 2023 Update.

Biomedicines
Tiucă, Robert Aurelian RA; Tiucă, Oana Mirela OM; Pașcanu, Ionela Maria IM
Publication Date: 2023-04-02

Variant appearance in text: rs2565200
PubMed Link: 37189693
Variant Present in the following documents:
  • Main text
  • biomedicines-11-01075.pdf
View BVdb publication page



Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022

Variant appearance in text: rs2565200
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: RET: 3188-627T>C; rs2565200
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs2565200
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Temozolomide Is a Potential Therapeutic Tool for Patients With Metastatic Pheochromocytoma/Paraganglioma-Case Report and Review of the Literature.

Frontiers In Endocrinology
Tong, Anli A; Li, Ming M; Cui, Yunying Y; Ma, Xiaosen X; Wang, Huiping H; Li, Yuxiu Y
Publication Date: 2020

Variant appearance in text: RET: 3188-627T>C; rs2565200
PubMed Link: 32132978
Variant Present in the following documents:
  • Data_Sheet_2.xls, sheet 2
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: RET: 3188-627T>C; rs2565200
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Associations between RET tagSNPs and their haplotypes and susceptibility, clinical severity, and thyroid function in patients with differentiated thyroid cancer.

Plos One
He, Caiyun C; Ma, Jiangjun J; Jiang, Yongle Y; Su, Xuan X; Zhang, Xiao X; Chen, Weichao W; Ye, Zulu Z; Deng, Tiancheng T; Deng, Wenze W; Yang, Ankui A
Publication Date: 2017

Variant appearance in text: rs2565200
PubMed Link: 29131865
Variant Present in the following documents:
  • Main text
  • pone.0187968.pdf
View BVdb publication page



RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease.

Plos One
Vaclavikova, Eliska E; Dvorakova, Sarka S; Skaba, Richard R; Pos, Lucie L; Sykorova, Vlasta V; Halkova, Tereza T; Vcelak, Josef J; Bendlova, Bela B
Publication Date: 2014

Variant appearance in text: rs2565200
PubMed Link: 24897126
Variant Present in the following documents:
  • Main text
  • pone.0098957.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: rs2565200
PubMed Link: 20532249
Variant Present in the following documents:
  • Main text
  • pone.0010918.pdf
View BVdb publication page