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: 12668A>G; Gln4223Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Genomic Analysis of Korean Patient With Microcephaly.

Frontiers In Genetics

Lee, Jiwon J; Park, Jong Eun JE; Lee, Chung C; Kim, Ah Reum AR; Kim, Byung Joon BJ; Park, Woong-Yang WY; Ki, Chang-Seok CS; Lee, Jeehun J

Publication Date: 2020

Variant appearance in text: KMT2D: 12668A>G; Gln4223Arg

PubMed Link: 33584783

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page