HM13 c.1034+139G>C

Variant ID: 20-30154237-G-C

NM_178581.1(HM13):c.1034+139G>C

This variant was identified in 5 publications

View GRCh38 version.




Publications:


JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: HM13: 1034+139G>C; rs11906851
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: HM13: 1034+139G>C; rs11906851
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 2
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs11906851
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Using population admixture to help complete maps of the human genome.

Nature Genetics
Genovese, Giulio G; Handsaker, Robert E RE; Li, Heng H; Altemose, Nicolas N; Lindgren, Amelia M AM; Chambert, Kimberly K; Pasaniuc, Bogdan B; Price, Alkes L AL; Reich, David D; Morton, Cynthia C CC; Pollak, Martin R MR; Wilson, James G JG; McCarroll, Steven A SA
Publication Date: 2013-04

Variant appearance in text: rs11906851
PubMed Link: 23435088
Variant Present in the following documents:
  • NIHMS474889-supplement-1.pdf
View BVdb publication page



Genome-wide SNP typing reveals signatures of population history.

Genomics
Hughes, Austin L AL; Welch, Robert R; Puri, Vinita V; Matthews, Casey C; Haque, Kashif K; Chanock, Stephen J SJ; Yeager, Meredith M
Publication Date: 2008-07

Variant appearance in text: rs11906851
PubMed Link: 18485661
Variant Present in the following documents:
  • Main text
View BVdb publication page