Publications:

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KMT2D: 15140C>T; Ala5047Val

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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T Cell Defects: New Insights Into the Primary Resistance Factor to CD19/CD22 Cocktail CAR T-Cell Immunotherapy in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology

Wang, Jiachen J; Shen, Kefeng K; Mu, Wei W; Li, Weigang W; Zhang, Meilan M; Zhang, Wei W; Li, Zhe Z; Ge, Tong T; Zhu, Zhoujie Z; Zhang, Shangkun S; Chen, Caixia C; Xing, Shugang S; Zhu, Li L; Chen, Liting L; Wang, Na N; Huang, Liang L; Li, Dengju D; Xiao, Min M; Zhou, Jianfeng J

Publication Date: 2022

Variant appearance in text: KMT2D: 15140C>T; Ala5047Val

PubMed Link: 35572515

Variant Present in the following documents:

• Table_2.xlsx, sheet 5

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: KMT2D: A5047V

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page