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: FDXR: 577C>T; Arg193Cys

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.

Investigative Ophthalmology & Visual Science

Jurkute, Neringa N; Shanmugarajah, Priya D PD; Hadjivassiliou, Marios M; Higgs, Jenny J; Vojcic, Miodrag M; Horrocks, Iain I; Nadjar, Yann Y; Touitou, Valerie V; Lenaers, Guy G; Poh, Roy R; Acheson, James J; Robson, Anthony G AG; Raymond, F Lucy FL; Reilly, Mary M MM; Yu-Wai-Man, Patrick P; Moore, Anthony T AT; Webster, Andrew R AR; Arno, Gavin G; ,

Publication Date: 2021-05-03

Variant appearance in text: FDXR: 577C>T; Arg193Cys

PubMed Link: 33938912

Variant Present in the following documents:

• Main text

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