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: 689C>T; Ala230Val

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Whole exome sequencing of pediatric leukemia reveals a novel InDel within FLT-3 gene in AML patient from Mizo tribal population, Northeast India.

Bmc Genomic Data

Vanlallawma, Andrew A; Lallawmzuali, Doris D; Pautu, Jeremy L JL; Scaria, Vinod V; Sivasubbu, Sridhar S; Kumar, Nachimuthu Senthil NS

Publication Date: 2022-03-28

Variant appearance in text: KMT2D: A230V

PubMed Link: 35350997

Variant Present in the following documents:

• 12863_2022_Article_1037.pdf

View BVdb publication page