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: 11714G>C; Arg3905Pro

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.

Molecular Genetics & Genomic Medicine

Dan, Handong H; Huang, Xin X; Xing, Yiqiao Y; Shen, Yin Y

Publication Date: 2020-03

Variant appearance in text: USH2A: 11714G>C; Arg3905Pro

PubMed Link: 31960602

Variant Present in the following documents:

• Main text
• MGG3-8-e1131.pdf

View BVdb publication page