TG c.638+5G>A

Variant ID: 8-133885471-G-A

NM_003235.4(TG):c.638+5G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetic testing can change diagnosis and treatment in children with congenital hypothyroidism.

European Thyroid Journal
Kara, Cengiz C; Mammadova, Jamala J; Abur, Ümmet Ü; Gumuskaptan, Cagri C; İzci Güllü, Elif E; Dağdemir, Ayhan A; Aydın, Murat M
Publication Date: 2023-03-01

Variant appearance in text: TG: 638+5G>A
PubMed Link: 36913313
Variant Present in the following documents:
  • Main text
  • supplementary_table_1.pdf
  • ETJ-22-0212.pdf
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: TG: 638+5G>A; rs774274702
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Semantic prioritization of novel causative genomic variants.

Plos Computational Biology
Boudellioua, Imane I; Mahamad Razali, Rozaimi B RB; Kulmanov, Maxat M; Hashish, Yasmeen Y; Bajic, Vladimir B VB; Goncalves-Serra, Eva E; Schoenmakers, Nadia N; Gkoutos, Georgios V GV; Schofield, Paul N PN; Hoehndorf, Robert R
Publication Date: 2017-04

Variant appearance in text: TG: 638+5G>A
PubMed Link: 28414800
Variant Present in the following documents:
  • Main text
  • pcbi.1005500.pdf
  • pcbi.1005500.s005.pdf
View BVdb publication page



Against all odds: blended phenotypes of three single-gene defects.

European Journal Of Human Genetics : Ejhg
Li, Yong Y; Salfelder, Anika A; Schwab, Karl Otfried KO; Grünert, Sarah Catharina SC; Velten, Tanja T; Lütjohann, Dieter D; Villavicencio-Lorini, Pablo P; Matysiak-Scholze, Uta U; Zabel, Bernhard B; Köttgen, Anna A; Lausch, Ekkehart E
Publication Date: 2016-08

Variant appearance in text: TG: 638+5G>A
PubMed Link: 26813946
Variant Present in the following documents:
  • Main text
View BVdb publication page