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: 5008G>A; Val1670Ile

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: KMT2D: V1670I

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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Plasma Circulating Tumor DNA in Patients with Primary Central Nervous System Lymphoma.

Cancer Research And Treatment

Yoon, Sang Eun SE; Kim, Yeon Jeong YJ; Shim, Joon Ho JH; Park, Donghyun D; Cho, Junhun J; Ko, Young Hyeh YH; Park, Woong-Yang WY; Mun, Yeung-Chul YC; Lee, Kyoung Eun KE; Cho, Duck D; Kim, Won Seog WS; Kim, Seok Jin SJ

Publication Date: 2022-04

Variant appearance in text: KMT2D: V1670I

PubMed Link: 34325497

Variant Present in the following documents:

• crt-2021-752.pdf

View BVdb publication page