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: 2249C>T; Pro750Leu

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: P750L

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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Analysis of the genomic landscapes of Barbadian and Nigerian women with triple negative breast cancer.

Cancer Causes & Control : Ccc

Hercules, Shawn M SM; Liu, Xiyu X; Bassey-Archibong, Blessing B I BBI; Skeete, Desiree H A DHA; Smith Connell, Suzanne S; Daramola, Adetola A; Banjo, Adekunbiola A AA; Ebughe, Godwin G; Agan, Thomas T; Ekanem, Ima-Obong IO; Udosen, Joe J; Obiorah, Christopher C; Ojule, Aaron C AC; Misauno, Michael A MA; Dauda, Ayuba M AM; Egbujo, Ejike C EC; Hercules, Jevon C JC; Ansari, Amna A; Brain, Ian I; MacColl, Christine C; Xu, Yili Y; Jin, Yuxin Y; Chang, Sharon S; Carpten, John D JD; Bédard, André A; Pond, Greg R GR; Blenman, Kim R M KRM; Manojlovic, Zarko Z; Daniel, Juliet M JM

Publication Date: 2022-06

Variant appearance in text: KMT2D: 2249C>T; Pro750Leu; rs767181879

PubMed Link: 35384527

Variant Present in the following documents:

• 10552_2022_1574_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Transient commensal clonal interactions can drive tumor metastasis.

Nature Communications

Naffar-Abu Amara, Suha S; Kuiken, Hendrik J HJ; Selfors, Laura M LM; Butler, Timothy T; Leung, Marco L ML; Leung, Cheuk T CT; Kuhn, Elaine P EP; Kolarova, Teodora T; Hage, Carina C; Ganesh, Kripa K; Panayiotou, Richard R; Foster, Rosemary R; Rueda, Bo R BR; Aktipis, Athena A; Spellman, Paul P; Ince, Tan A TA; Xiu, Joanne J; Oberley, Matthew M; Gatalica, Zoran Z; Navin, Nicholas N; Mills, Gordon B GB; Bronson, Rodrick T RT; Brugge, Joan S JS

Publication Date: 2020-11-16

Variant appearance in text: KMT2D: P750L

PubMed Link: 33199705

Variant Present in the following documents:

• 41467_2020_19584_MOESM4_ESM.xlsx, sheet 1
• 41467_2020_19584_MOESM4_ESM.xlsx, sheet 2

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: 2249C>T; P750L

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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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: KMT2D: P750L

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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