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: 3310G>T; Gly1104Cys

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy

Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J

Publication Date: 2023-01-19

Variant appearance in text: COL4A5: G1104C

PubMed Link: 36653483

Variant Present in the following documents:

• 41417_2022_572_MOESM2_ESM.xlsx, sheet 1
• 41417_2022_572_MOESM9_ESM.xlsx, sheet 5

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Utility of Genomic Testing after Renal Biopsy.

American Journal Of Nephrology

Murray, Susan L SL; Dorman, Anthony A; Benson, Katherine A KA; Connaughton, Dervla M DM; Stapleton, Caragh P CP; Fennelly, Neil K NK; Kennedy, Claire C; McDonnell, Ciara A CA; Kidd, Kendrah K; Cormican, Sarah M SM; Ryan, Louise A LA; Lavin, Peter P; Little, Mark A MA; Bleyer, Anthony J AJ; Doyle, Brendan B; Cavalleri, Gianpiero L GL; Hildebrandt, Friedhelm F; Conlon, Peter J PJ

Publication Date: 2020

Variant appearance in text: COL4A5: 3310G>T; Gly1104Cys

PubMed Link: 31822006

Variant Present in the following documents:

• Main text

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