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: TPRN: 206G>A; Arg69Gln

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.

Cancer Research Communications

Magistri, Marco M; Happ, Lanie E LE; Ramdial, Jeremy J; Lu, XiaoQing X; Stathias, Vasileios V; Kunkalla, Kranthi K; Agarwal, Nitin N; Jiang, Xiaoyu X; Schürer, Stephan C SC; Dubovy, Sander R SR; Chapman, Jennifer R JR; Vega, Francisco F; Dave, Sandeep S; Lossos, Izidore S IS

Publication Date: 2021-10

Variant appearance in text: TPRN: R69Q

PubMed Link: 35528192

Variant Present in the following documents:

• crc-21-0022-s03.xlsx, sheet 1

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Genomic Profiling of Biliary Tract Cancer Cell Lines Reveals Molecular Subtypes and Actionable Drug Targets.

Iscience

Lau, David K DK; Mouradov, Dmitri D; Wasenang, Wiphawan W; Luk, Ian Y IY; Scott, Cameron M CM; Williams, David S DS; Yeung, Yvonne H YH; Limpaiboon, Temduang T; Iatropoulos, George F GF; Jenkins, Laura J LJ; Reehorst, Camilla M CM; Chionh, Fiona F; Nikfarjam, Mehrdad M; Croagh, Daniel D; Dhillon, Amardeep S AS; Weickhardt, Andrew J AJ; Muramatsu, Toshihide T; Saito, Yoshimasa Y; Tebbutt, Niall C NC; Sieber, Oliver M OM; Mariadason, John M JM

Publication Date: 2019-11-22

Variant appearance in text: TPRN: R69Q

PubMed Link: 31731200

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page