Publications:

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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: 2425G>A; Gly809Ser

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A Novel Mutation in the NBD Domain of NLRC4 Causes Mild Autoinflammation With Recurrent Urticaria.

Frontiers In Immunology

Wang, Li L; Wen, Wen W; Deng, Mengyue M; Li, Yue Y; Sun, Gan G; Zhao, Xiaodong X; Tang, Xuemei X; Mao, Huawei H

Publication Date: 2021

Variant appearance in text: NLRP3: G809S

PubMed Link: 34248956

Variant Present in the following documents:

• fimmu-12-674808.pdf

View BVdb publication page

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Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes.

Frontiers In Immunology

Samson, Jenny Mae JM; Ravindran Menon, Dinoop D; Vaddi, Prasanna K PK; Kalani Williams, Nazanin N; Domenico, Joanne J; Zhai, Zili Z; Backos, Donald S DS; Fujita, Mayumi M

Publication Date: 2020

Variant appearance in text: NLRP3: G809S

PubMed Link: 33329557

Variant Present in the following documents:

• fimmu-11-584364.pdf

View BVdb publication page

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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: rs141389711

PubMed Link: 32082075

Variant Present in the following documents:

• Main text
• MI2019-3293145.pdf

View BVdb publication page

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The Long-Term Efficacy of Cochlear Implantation for Hearing Loss in Muckel-Wells Syndrome.

The Journal Of International Advanced Otology

Ogawa, Bakushi B; Aoki, Mitsuhiro M; Ohnishi, Hidenori H; Ohashi, Toshimitsu T; Hayashi, Hisamitsu H; Kuze, Bunya B; Ito, Yatsuji Y

Publication Date: 2019-12

Variant appearance in text: MWS: G809S

PubMed Link: 31846928

Variant Present in the following documents:

• Main text

View BVdb publication page

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Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

Biochemistry And Biophysics Reports

Nakayama, Manabu M; Oda, Hirotsugu H; Nakagawa, Kenji K; Yasumi, Takahiro T; Kawai, Tomoki T; Izawa, Kazushi K; Nishikomori, Ryuta R; Heike, Toshio T; Ohara, Osamu O

Publication Date: 2017-03

Variant appearance in text: rs141389711

PubMed Link: 28956000

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Targeting the NLRP3 inflammasome in chronic inflammatory diseases: current perspectives.

Journal Of Inflammation Research

Ozaki, Ema E; Campbell, Matthew M; Doyle, Sarah L SL

Publication Date: 2015

Variant appearance in text: FCAS: GLY809SER; rs141389711

PubMed Link: 25653548

Variant Present in the following documents:

• Main text
• jir-8-015.pdf

View BVdb publication page

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