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: 488T>C; Met163Thr

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Integrative genomic and transcriptomic analysis in plasmablastic lymphoma identifies disruption of key regulatory pathways.

Blood Advances

Witte, Hanno M HM; Künstner, Axel A; Hertel, Nadine N; Bernd, Heinz-Wolfram HW; Bernard, Veronica V; Stölting, Stephanie S; Merz, Hartmut H; von Bubnoff, Nikolas N; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N

Publication Date: 2022-01-25

Variant appearance in text: COL4A5: M163T; rs142503631

PubMed Link: 34714908

Variant Present in the following documents:

• advancesADV2021005486-suppl6.xlsx, sheet 1

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Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.

Bmc Medical Genetics

Bagnall, Richard D RD; Molloy, Laura K LK; Kalman, Jonathan M JM; Semsarian, Christopher C

Publication Date: 2014-09-16

Variant appearance in text: COL4A5: MET163THR

PubMed Link: 25224718

Variant Present in the following documents:

• 12881_2014_99_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page