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: NLRP3: 292C>T; Arg98Cys

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Mediators Of Inflammation

Gaggiano, Carla C; Rigante, Donato D; Vitale, Antonio A; Lucherini, Orso Maria OM; Fabbiani, Alessandra A; Capozio, Giovanna G; Marzo, Chiara C; Gelardi, Viviana V; Grosso, Salvatore S; Frediani, Bruno B; Renieri, Alessandra A; Cantarini, Luca L

Publication Date: 2019

Variant appearance in text: rs375013904

PubMed Link: 32082075

Variant Present in the following documents:

• Main text
• MI2019-3293145.pdf

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Putative link between Polo-like kinases (PLKs) and Toll-like receptor (TLR) signaling in transformed and primary human immune cells.

Scientific Reports

El Maadidi, Souhayla S; Weber, Alexander N R ANR; Motshwene, Precious P; Schüssler, Jan Moritz JM; Backes, Daniel D; Dickhöfer, Sabine S; Wang, Hui H; Liu, Xiao X; Garcia, Magno Delmiro MD; Taumer, Christoph C; Soufi, Boumediene B; Wolz, Olaf-Oliver OO; Klimosch, Sascha N SN; Franz-Wachtel, Mirita M; Macek, Boris B; Gay, Nicholas J NJ

Publication Date: 2019-09-11

Variant appearance in text: NLRP3: R98C

PubMed Link: 31511529

Variant Present in the following documents:

• 41598_2019_Article_49017.pdf

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