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: 3266G>A; Gly1089Glu

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy.

Human Genome Variation

Fu, Xue J XJ; Morisada, Naoya N; Hashimoto, Fusako F; Taniguchi-Ikeda, Mariko M; Hashimura, Yuya Y; Ohtsubo, Hiromi H; Ninchoji, Takeshi T; Kaito, Hiroshi H; Nozu, Kandai K; Takahashi, Eihiko E; Nakanishi, Koichi K; Kurahashi, Hiroki H; Iijima, Kazumoto K

Publication Date: 2014

Variant appearance in text: COL4A5: 3266G>A

PubMed Link: 27081500

Variant Present in the following documents:

• Main text

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