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: USH2A: 9918T>G; Cys3306Trp

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.

Genes

Comander, Jason J; Weigel-DiFranco, Carol C; Maher, Matthew M; Place, Emily E; Wan, Aliete A; Harper, Shyana S; Sandberg, Michael A MA; Navarro-Gomez, Daniel D; Pierce, Eric A EA

Publication Date: 2017-10-05

Variant appearance in text: USH2A: 9918T>G; Cys3306Trp

PubMed Link: 28981474

Variant Present in the following documents:

• Main text
• genes-08-00256.pdf
• genes-08-00256-s001.xlsx, sheet 1

View BVdb publication page