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: 1507G>C; Gly503Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Genotype and Outcome After Kidney Transplantation in Alport Syndrome.

Kidney International Reports

Gillion, Valentine V; Dahan, Karin K; Cosyns, Jean-Pierre JP; Hilbert, Pascale P; Jadoul, Michel M; Goffin, Eric E; Godefroid, Nathalie N; De Meyer, Martine M; Mourad, Michel M; Pirson, Yves Y; Kanaan, Nada N

Publication Date: 2018-05

Variant appearance in text: COL4A5: 1507G>C; Gly503Arg

PubMed Link: 29854973

Variant Present in the following documents:

• Main text
• main.pdf

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