Publications:

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Suppression of lusitropy as a disease mechanism in cardiomyopathies.

Frontiers In Cardiovascular Medicine

Marston, Steven S; Pinto, Jose Renato JR

Publication Date: 2022

Variant appearance in text: TG: R278C

PubMed Link: 36698941

Variant Present in the following documents:

• Main text
• fcvm-09-1080965.pdf

View BVdb publication page

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The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.

Nature Communications

Kim, Young Jin YJ; Moon, Sanghoon S; Hwang, Mi Yeong MY; Han, Sohee S; Jang, Hye-Mi HM; Kong, Jinhwa J; Shin, Dong Mun DM; Yoon, Kyungheon K; Kim, Sung Min SM; Lee, Jong-Eun JE; Mahajan, Anubha A; Park, Hyun-Young HY; McCarthy, Mark I MI; Cho, Yoon Shin YS; Kim, Bong-Jo BJ

Publication Date: 2022-11-04

Variant appearance in text: TG: Arg278Cys

PubMed Link: 36333282

Variant Present in the following documents:

• 41467_2022_34163_MOESM3_ESM.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: TG: R278C

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: TG: R278C

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Plos One

Mademont-Soler, Irene I; Mates, Jesus J; Yotti, Raquel R; Espinosa, Maria Angeles MA; Pérez-Serra, Alexandra A; Fernandez-Avila, Ana Isabel AI; Coll, Monica M; Méndez, Irene I; Iglesias, Anna A; Del Olmo, Bernat B; Riuró, Helena H; Cuenca, Sofía S; Allegue, Catarina C; Campuzano, Oscar O; Picó, Ferran F; Ferrer-Costa, Carles C; Álvarez, Patricia P; Castillo, Sergio S; Garcia-Pavia, Pablo P; Gonzalez-Lopez, Esther E; Padron-Barthe, Laura L; Díaz de Bustamante, Aranzazu A; Darnaude, María Teresa MT; González-Hevia, José Ignacio JI; Brugada, Josep J; Fernandez-Aviles, Francisco F; Brugada, Ramon R

Publication Date: 2017

Variant appearance in text: TG: R278C

PubMed Link: 28771489

Variant Present in the following documents:

• pone.0181465.pdf

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Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?

Frontiers In Physiology

Marston, Steven B SB

Publication Date: 2016

Variant appearance in text: TG: R278C

PubMed Link: 27725803

Variant Present in the following documents:

• Main text
• fphys-07-00415.pdf

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: TG: R278C

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy.

Plos One

Ahmad, Ferhaan F; Banerjee, Sanjay K SK; Lage, Michele L ML; Huang, Xueyin N XN; Smith, Stephen H SH; Saba, Samir S; Rager, Jennifer J; Conner, David A DA; Janczewski, Andrzej M AM; Tobita, Kimimasa K; Tinney, Joseph P JP; Moskowitz, Ivan P IP; Perez-Atayde, Antonio R AR; Keller, Bradley B BB; Mathier, Michael A MA; Shroff, Sanjeev G SG; Seidman, Christine E CE; Seidman, J G JG

Publication Date: 2008-07-09

Variant appearance in text: TG: R278C

PubMed Link: 18612386

Variant Present in the following documents:

• pone.0002642.pdf

View BVdb publication page

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