TOX c.102+48913G>T

Variant ID: 8-59982532-C-A

NM_014729.2(TOX):c.102+48913G>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Do Genetic Polymorphisms Affect Fetal Hemoglobin (HbF) Levels in Patients With Sickle Cell Anemia Treated With Hydroxyurea? A Systematic Review and Pathway Analysis.

Frontiers In Pharmacology
Sales, Rahyssa Rodrigues RR; Nogueira, Bárbara Lisboa BL; Tosatti, Jéssica Abdo Gonçalves JAG; Gomes, Karina Braga KB; Luizon, Marcelo Rizzatti MR
Publication Date: 2021

Variant appearance in text: rs380620
PubMed Link: 35126118
Variant Present in the following documents:
  • Main text
  • fphar-12-779497.pdf
View BVdb publication page



Genome-based therapeutic interventions for β-type hemoglobinopathies.

Human Genomics
Karamperis, Kariofyllis K; Tsoumpeli, Maria T MT; Kounelis, Fotios F; Koromina, Maria M; Mitropoulou, Christina C; Moutinho, Catia C; Patrinos, George P GP
Publication Date: 2021-06-05

Variant appearance in text: rs380620
PubMed Link: 34090531
Variant Present in the following documents:
  • Main text
  • 40246_2021_Article_329.pdf
View BVdb publication page



An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine.

Omics : A Journal Of Integrative Biology
Mnika, Khuthala K; Pule, Gift D GD; Dandara, Collet C; Wonkam, Ambroise A
Publication Date: 2016-10

Variant appearance in text: rs380620
PubMed Link: 27636225
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.

Genomics Insights
Driss, A A; Asare, K O KO; Hibbert, J M JM; Gee, B E BE; Adamkiewicz, T V TV; Stiles, J K JK
Publication Date: 2009-07-30

Variant appearance in text: rs380620
PubMed Link: 20401335
Variant Present in the following documents:
  • Main text
View BVdb publication page



A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.

Bmc Genetics
Sebastiani, Paola P; Zhao, Zhenming Z; Abad-Grau, Maria M MM; Riva, Alberto A; Hartley, Stephen W SW; Sedgewick, Amanda E AE; Doria, Alessandro A; Montano, Monty M; Melista, Efthymia E; Terry, Dellara D; Perls, Thomas T TT; Steinberg, Martin H MH; Baldwin, Clinton T CT
Publication Date: 2008-01-14

Variant appearance in text: rs380620
PubMed Link: 18194558
Variant Present in the following documents:
  • Main text
  • 1471-2156-9-6.pdf
View BVdb publication page