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: KMT2D: 7898C>T; Ser2633Leu

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Whole-Exome Sequencing Could Distinguish Primary Pulmonary Squamous Cell Carcinoma From Lung Metastases in Individuals With Cervical Squamous Cell Carcinoma.

Pathology Oncology Research : Por

Li, Lihong L; Song, Qianqian Q; Cao, Dandan D; Jiao, Yuchen Y; Yuan, Guangwen G; Song, Yan Y

Publication Date: 2022

Variant appearance in text: rs781219955

PubMed Link: 35645619

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3
• DataSheet1.xlsx, sheet 2

View BVdb publication page