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: 13157T>C; Ile4386Thr

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Identification of sequence variants associated with severe microtia-astresia by targeted sequencing.

Bmc Medical Genomics

Wang, Pu P; Wang, Yibei Y; Fan, Xinmiao X; Liu, Yaping Y; Fan, Yue Y; Liu, Tao T; Chen, Chongjian C; Zhang, Shuyang S; Chen, Xiaowei X

Publication Date: 2019-01-28

Variant appearance in text: USH2A: 13157T>C; I4386T

PubMed Link: 30691450

Variant Present in the following documents:

• Main text
• 12920_2019_Article_475.pdf

View BVdb publication page