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: 4801C>T; Arg1601Cys

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Beyond TNBC: Repositioning of Clofazimine Against a Broad Range of Wnt-Dependent Cancers.

Frontiers In Oncology

Xu, Jiabin J; Koval, Alexey A; Katanaev, Vladimir L VL

Publication Date: 2020

Variant appearance in text: KMT2D: R1601C

PubMed Link: 33363033

Variant Present in the following documents:

• fonc-10-602817.pdf

View BVdb publication page