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: 10601A>G; Tyr3534Cys

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Molecular genetics of inherited retinal degenerations in Icelandic patients.

Clinical Genetics

Thorsteinsson, Daniel A DA; Stefansdottir, Vigdis V; Eysteinsson, Thor T; Thorisdottir, Sigridur S; Jonsson, Jon J JJ

Publication Date: 2021-08

Variant appearance in text: USH2A: 10601A>G; Tyr3534Cys

PubMed Link: 33851411

Variant Present in the following documents:

• Main text
• CGE-100-156.pdf

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Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.

Molecular Genetics & Genomic Medicine

Sun, Yan Y; Li, Wei W; Li, Jian-Kang JK; Wang, Zhuo-Shi ZS; Bai, Jin-Yue JY; Xu, Ling L; Xing, Bo B; Yang, Wen W; Wang, Zi-Wei ZW; Wang, Lu-Sheng LS; He, Wei W; Chen, Fang F

Publication Date: 2020-04

Variant appearance in text: USH2A: 10601A>G; Tyr3534Cys

PubMed Link: 32100970

Variant Present in the following documents:

• Main text
• MGG3-8-e1184.pdf

View BVdb publication page