BLM c.4077-1828T>C

Variant ID: 15-91356504-T-C

NM_000057.2(BLM):c.4077-1828T>C

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Validation of Polymorphisms Associated with the Risk of Radiation-Induced Oesophagitis in an Independent Cohort of Non-Small-Cell Lung Cancer Patients.

Cancers
Aguado-Barrera, Miguel E ME; Martínez-Calvo, Laura L; Fernández-Tajes, Juan J; Calvo-Crespo, Patricia P; Taboada-Valladares, Begoña B; Lobato-Busto, Ramón R; Gómez-Caamaño, Antonio A; Vega, Ana A
Publication Date: 2021-03-22

Variant appearance in text: rs401549
PubMed Link: 33810047
Variant Present in the following documents:
  • Main text
  • cancers-13-01447-s001.pdf
  • cancers-13-01447.pdf
View BVdb publication page



Determinants of SARS-CoV-2 receptor gene expression in upper and lower airways.

Medrxiv : The Preprint Server For Health Sciences
Aliee, Hananeh H; Massip, Florian F; Qi, Cancan C; Stella de Biase, Maria M; van Nijnatten, Johannes L JL; Kersten, Elin T G ETG; Kermani, Nazanin Z NZ; Khuder, Basil B; Vonk, Judith M JM; Vermeulen, Roel C H RCH; Neighbors, Margaret M; Tew, Gaik W GW; Grimbaldeston, Michele M; Ten Hacken, Nick H T NHT; Hu, Sile S; Guo, Yike Y; Zhang, Xiaoyu X; Sun, Kai K; Hiemstra, Pieter S PS; Ponder, Bruce A BA; Makela, Mika J MJ; Malmstrom, Kristiina K; Rintoul, Robert C RC; Reyfman, Paul A PA; Theis, Fabian J FJ; Brandsma, Corry-A CA; Adcock, Ian I; Timens, Wim W; Xu, Cheng J CJ; van den Berge, Maarten M; Schwarz, Roland F RF; Koppelman, Gerard H GH; Nawijn, Martijn C MC; Faiz, Alen A
Publication Date: 2020-09-02

Variant appearance in text: rs401549
PubMed Link: 32909007
Variant Present in the following documents:
  • Main text
  • nihpp-2020.08.31.20169946.pdf
View BVdb publication page



Determinants of SARS-CoV-2 receptor gene expression in upper and lower airways.

Medrxiv : The Preprint Server For Health Sciences
Aliee, H H; Massip, F F; Qi, C C; de Biase, M Stella MS; van Nijnatten, J J; Kersten, E T G ETG; Kermani, N Z NZ; Khuder, B B; Vonk, J M JM; Vermeulen, R C H RCH; , ; , ; , ; , ; Neighbors, M M; Tew, G W GW; Grimbaldeston, M M; Ten Hacken, N H T NHT; Hu, S S; Guo, Y Y; Zhang, X X; Sun, K K; Hiemstra, P S PS; Ponder, B A BA; Mäkelä, M J MJ; Malmström, K K; Rintoul, R C RC; Reyfman, P A PA; Theis, F J FJ; Brandsma, C A CA; Adcock, I M IM; Timens, W W; Xu, C J CJ; van den Berge, M M; Schwarz, R F RF; Koppelman, G H GH; Nawijn, M C MC; Faiz, A A
Publication Date: 2020-09-02

Variant appearance in text: rs401549
PubMed Link: 32909007
Variant Present in the following documents:
  • Main text
  • nihpp-2020.08.31.20169946.pdf
View BVdb publication page



Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.

Scientific Reports
Alzahrani, Faisal A FA; Ahmed, Firoz F; Sharma, Monika M; Rehan, Mohd M; Mahfuz, Maryam M; Baeshen, Mohammed N MN; Hawsawi, Yousef Y; Almatrafi, Ahmed A; Alsagaby, Suliman Abdallah SA; Kamal, Mohammad Azhar MA; Warsi, Mohiuddin Khan MK; Choudhry, Hani H; Jamal, Mohammad Sarwar MS
Publication Date: 2020-07-23

Variant appearance in text: BLM: 4077-1828T>C; rs401549
PubMed Link: 32704157
Variant Present in the following documents:
  • 41598_2020_69033_MOESM4_ESM.xlsx, sheet 5
  • 41598_2020_69033_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Association between Genetic Variants in DNA Double-Strand Break Repair Pathways and Risk of Radiation Therapy-Induced Pneumonitis and Esophagitis in Non-Small Cell Lung Cancer.

Cancers
Zhao, Lina L; Pu, Xia X; Ye, Yuanqing Y; Lu, Charles C; Chang, Joe Y JY; Wu, Xifeng X
Publication Date: 2016-02-18

Variant appearance in text: rs401549
PubMed Link: 26901225
Variant Present in the following documents:
  • Main text
  • cancers-08-00023.pdf
View BVdb publication page



Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study.

Bmc Cancer
Broberg, Karin K; Huynh, Elizabeth E; Schläwicke Engström, Karin K; Björk, Jonas J; Albin, Maria M; Ingvar, Christian C; Olsson, Håkan H; Höglund, Mattias M
Publication Date: 2009-05-11

Variant appearance in text: rs401549
PubMed Link: 19432957
Variant Present in the following documents:
  • Main text
  • 1471-2407-9-140.pdf
View BVdb publication page



Large-scale evaluation of candidate genes identifies associations between DNA repair and genomic maintenance and development of benzene hematotoxicity.

Carcinogenesis
Lan, Qing Q; Zhang, Luoping L; Shen, Min M; Jo, William J WJ; Vermeulen, Roel R; Li, Guilan G; Vulpe, Christopher C; Lim, Sophia S; Ren, Xuefeng X; Rappaport, Stephen M SM; Berndt, Sonja I SI; Yeager, Meredith M; Yuenger, Jeff J; Hayes, Richard B RB; Linet, Martha M; Yin, Songnian S; Chanock, Stephen S; Smith, Martyn T MT; Rothman, Nathaniel N
Publication Date: 2009-01

Variant appearance in text: rs401549
PubMed Link: 18978339
Variant Present in the following documents:
  • Main text
View BVdb publication page