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: 12371C>G; Pro4124Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.

Scientific Reports

Bravo-Gil, Nereida N; González-Del Pozo, María M; Martín-Sánchez, Marta M; Méndez-Vidal, Cristina C; Rodríguez-de la Rúa, Enrique E; Borrego, Salud S; Antiñolo, Guillermo G

Publication Date: 2017-02-03

Variant appearance in text: USH2A: 12371C>G; P4124R

PubMed Link: 28157192

Variant Present in the following documents:

• Main text
• srep41937.pdf

View BVdb publication page