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: 224C>T; Ala75Val

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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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: rs200288250

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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A novel pyroptosis-regulated gene signature for predicting prognosis and immunotherapy response in hepatocellular carcinoma.

Frontiers In Molecular Biosciences

Zhang, Baozhu B; Wang, Zhan Z

Publication Date: 2022

Variant appearance in text: NLRP3: A75V

PubMed Link: 36262473

Variant Present in the following documents:

• DataSheet2.xlsx, sheet 7

View BVdb publication page

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A novel cuproptosis-related prognostic lncRNA signature for predicting immune and drug therapy response in hepatocellular carcinoma.

Frontiers In Immunology

Chen, Shujia S; Liu, Peiyan P; Zhao, Lili L; Han, Ping P; Liu, Jie J; Yang, Hang H; Li, Jia J

Publication Date: 2022

Variant appearance in text: NLRP3: A75V

PubMed Link: 36189204

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: rs200288250

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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: 224C>T

PubMed Link: 33329557

Variant Present in the following documents:

• Main text
• 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: NLRP3: 224C>T; rs200288250

PubMed Link: 32082075

Variant Present in the following documents:

• Main text
• MI2019-3293145.pdf

View BVdb publication page

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