POLE c.1686+1G>A

Variant ID: 12-133249212-C-T

NM_006231.2(POLE):c.1686+1G>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.

British Journal Of Cancer
Cifuentes, Guadalupe A GA; Santiago, Adrián A; Méndez Blanco, Lucía L; Fueyo, María M; López Martínez, Esther E; Soria, Raquel R; Martín López, Irene I; Cucarella Beltrán, Pepa P; Pardo-Coto, Pablo P; Rodriguez-Rubi, David D; Urquilla, Karla K; Durán, Noelia S NS; Álvarez, Rebeca R; Lago, Claudia G CG; Otero, Andrea A; Diñeiro, Marta M; Capín, Raquel R; Cadiñanos, Juan J; Cabanillas, Rubén R
Publication Date: 2022-12-22

Variant appearance in text: POLE: 1686+1G>A
PubMed Link: 36550207
Variant Present in the following documents:
  • Main text
  • 41416_2022_2102_MOESM6_ESM.xlsx, sheet 1
  • 41416_2022_Article_2102.pdf
View BVdb publication page



DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

American Journal Of Human Genetics
Logan, Clare V CV; Murray, Jennie E JE; Parry, David A DA; Robertson, Andrea A; Bellelli, Roberto R; Tarnauskaitė, Žygimantė Ž; Challis, Rachel R; Cleal, Louise L; Borel, Valerie V; Fluteau, Adeline A; Santoyo-Lopez, Javier J; , ; Aitman, Tim T; Barroso, Inês I; Basel, Donald D; Bicknell, Louise S LS; Goel, Himanshu H; Hu, Hao H; Huff, Chad C; Hutchison, Michele M; Joyce, Caroline C; Knox, Rachel R; Lacroix, Amy E AE; Langlois, Sylvie S; McCandless, Shawn S; McCarrier, Julie J; Metcalfe, Kay A KA; Morrissey, Rose R; Murphy, Nuala N; Netchine, Irène I; O'Connell, Susan M SM; Olney, Ann Haskins AH; Paria, Nandina N; Rosenfeld, Jill A JA; Sherlock, Mark M; Syverson, Erin E; White, Perrin C PC; Wise, Carol C; Yu, Yao Y; Zacharin, Margaret M; Banerjee, Indraneel I; Reijns, Martin M; Bober, Michael B MB; Semple, Robert K RK; Boulton, Simon J SJ; Rios, Jonathan J JJ; Jackson, Andrew P AP
Publication Date: 2018-12-06

Variant appearance in text: POLE: 1686+1G>A
PubMed Link: 30503519
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • mmc1.pdf
View BVdb publication page