Publications:

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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: 2132C>T; Pro711Leu

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: KMT2D: P711L

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: KMT2D: 2132C>T

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: KMT2D: 2132C>T; P711L

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: KMT2D: P711L

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 11

View BVdb publication page

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POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

Journal Of The American Heart Association

Calvete, Oriol O; Garcia-Pavia, Pablo P; Domínguez, Fernando F; Mosteiro, Lluc L; Pérez-Cabornero, Lucía L; Cantalapiedra, Diego D; Zorio, Esther E; Ramón Y Cajal, Teresa T; Crespo-Leiro, Maria G MG; Teulé, Álex Á; Lázaro, Conxi C; Morente, Manuel M MM; Urioste, Miguel M; Benitez, Javier J

Publication Date: 2019-09-17

Variant appearance in text: KMT2D: Pro711Leu

PubMed Link: 31510873

Variant Present in the following documents:

• JAH3-8-e012875.pdf

View BVdb publication page

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Integrative molecular characterization of Chinese prostate cancer specimens.

Asian Journal Of Andrology

Lv, Shi-Dong SD; Wang, Hong-Yi HY; Yu, Xin-Pei XP; Zhai, Qi-Liang QL; Wu, Yao-Bin YB; Wei, Qiang Q; Huang, Wen-Hua WH

Publication Date: 2020

Variant appearance in text: KMT2D: P711L

PubMed Link: 31134918

Variant Present in the following documents:

• AJA-22-162_Suppl1.pdf
• AJA-22-162.pdf

View BVdb publication page

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Histone methyltransferase KMT2D sustains prostate carcinogenesis and metastasis via epigenetically activating LIFR and KLF4.

Oncogene

Lv, Shidong S; Ji, Liyan L; Chen, Bin B; Liu, Shuqiang S; Lei, Chengyong C; Liu, Xi X; Qi, Xiaoxiao X; Wang, Ying Y; Lai-Han Leung, Elaine E; Wang, Hongyi H; Zhang, Lin L; Yu, Xiaoming X; Liu, Zhongqiu Z; Wei, Qiang Q; Lu, Linlin L

Publication Date: 2018-03

Variant appearance in text: KMT2D: P711L

PubMed Link: 29269867

Variant Present in the following documents:

• Main text
• 41388_2017_Article_26.pdf

View BVdb publication page

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