KLHL32 c.312+10572G>C

Variant ID: 6-97500047-G-C

NM_052904.3(KLHL32):c.312+10572G>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs12195230
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.

American Journal Of Human Genetics
Simino, Jeannette J; Shi, Gang G; Bis, Joshua C JC; Chasman, Daniel I DI; Ehret, Georg B GB; Gu, Xiangjun X; Guo, Xiuqing X; Hwang, Shih-Jen SJ; Sijbrands, Eric E; Smith, Albert V AV; Verwoert, Germaine C GC; Bragg-Gresham, Jennifer L JL; Cadby, Gemma G; Chen, Peng P; Cheng, Ching-Yu CY; Corre, Tanguy T; de Boer, Rudolf A RA; Goel, Anuj A; Johnson, Toby T; Khor, Chiea-Chuen CC; , ; Lluís-Ganella, Carla C; Luan, Jian'an J; Lyytikäinen, Leo-Pekka LP; Nolte, Ilja M IM; Sim, Xueling X; Sõber, Siim S; van der Most, Peter J PJ; Verweij, Niek N; Zhao, Jing Hua JH; Amin, Najaf N; Boerwinkle, Eric E; Bouchard, Claude C; Dehghan, Abbas A; Eiriksdottir, Gudny G; Elosua, Roberto R; Franco, Oscar H OH; Gieger, Christian C; Harris, Tamara B TB; Hercberg, Serge S; Hofman, Albert A; James, Alan L AL; Johnson, Andrew D AD; Kähönen, Mika M; Khaw, Kay-Tee KT; Kutalik, Zoltan Z; Larson, Martin G MG; Launer, Lenore J LJ; Li, Guo G; Liu, Jianjun J; Liu, Kiang K; Morrison, Alanna C AC; Navis, Gerjan G; Ong, Rick Twee-Hee RT; Papanicolau, George J GJ; Penninx, Brenda W BW; Psaty, Bruce M BM; Raffel, Leslie J LJ; Raitakari, Olli T OT; Rice, Kenneth K; Rivadeneira, Fernando F; Rose, Lynda M LM; Sanna, Serena S; Scott, Robert A RA; Siscovick, David S DS; Stolk, Ronald P RP; Uitterlinden, Andre G AG; Vaidya, Dhananjay D; van der Klauw, Melanie M MM; Vasan, Ramachandran S RS; Vithana, Eranga Nishanthie EN; Völker, Uwe U; Völzke, Henry H; Watkins, Hugh H; Young, Terri L TL; Aung, Tin T; Bochud, Murielle M; Farrall, Martin M; Hartman, Catharina A CA; Laan, Maris M; Lakatta, Edward G EG; Lehtimäki, Terho T; Loos, Ruth J F RJ; Lucas, Gavin G; Meneton, Pierre P; Palmer, Lyle J LJ; Rettig, Rainer R; Snieder, Harold H; Tai, E Shyong ES; Teo, Yik-Ying YY; van der Harst, Pim P; Wareham, Nicholas J NJ; Wijmenga, Cisca C; Wong, Tien Yin TY; Fornage, Myriam M; Gudnason, Vilmundur V; Levy, Daniel D; Palmas, Walter W; Ridker, Paul M PM; Rotter, Jerome I JI; van Duijn, Cornelia M CM; Witteman, Jacqueline C M JC; Chakravarti, Aravinda A; Rao, Dabeeru C DC
Publication Date: 2014-07-03

Variant appearance in text: rs12195230
PubMed Link: 24954895
Variant Present in the following documents:
  • Main text
View BVdb publication page