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: 6946C>G; Leu2316Val

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Plasma circulating tumor DNA assessment reveals KMT2D as a potential poor prognostic factor in extranodal NK/T-cell lymphoma.

Biomarker Research

Li, Qiong Q; Zhang, Wei W; Li, Jiali J; Xiong, Jingkang J; Liu, Jia J; Chen, Ting T; Wen, Qin Q; Zeng, Yunjing Y; Gao, Li L; Gao, Lei L; Zhang, Cheng C; Kong, Peiyan P; Peng, Xiangui X; Liu, Yao Y; Zhang, Xi X; Rao, Jun J

Publication Date: 2020

Variant appearance in text: KMT2D: L2316V

PubMed Link: 32695399

Variant Present in the following documents:

• Main text
• 40364_2020_Article_205.pdf

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