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: COL4A5: 2405G>T; Gly802Val

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Somatic Mosaicism in a Male Patient With X-linked Alport Syndrome.

Kidney International Reports

Bu, Lihong L; Chen, Judy J; Nelson, Andrew C AC; Katz, Avi A; Kashtan, Clifford E CE; Kim, Youngki Y; Pierpont, Mary Ella ME

Publication Date: 2019-07

Variant appearance in text: COL4A5: 2405G>T; Gly802Val

PubMed Link: 31312776

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page