Publications:

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: TNFRSF1A: 175T>C; Cys59Arg

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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Renal AA Amyloidosis as Rare Presentation of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome in Pediatric Patient.

Kidney International Reports

Cody, Ellen E; Ayoob, Rose R; Mitsnefes, Mark M

Publication Date: 2021-11

Variant appearance in text: TNFRSF1A: 175T>C; Cys59Arg

PubMed Link: 34805644

Variant Present in the following documents:

• Main text
• main.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: TNFRSF1A: 175T>C; Cys59Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 5
• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

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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: TNFRSF1A: 175T>C; rs104895217

PubMed Link: 32082075

Variant Present in the following documents:

• Main text
• MI2019-3293145.pdf

View BVdb publication page

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Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor-associated periodic syndrome.

Clinical And Experimental Immunology

Tsuji, S S; Matsuzaki, H H; Iseki, M M; Nagasu, A A; Hirano, H H; Ishihara, K K; Ueda, N N; Honda, Y Y; Horiuchi, T T; Nishikomori, R R; Morita, Y Y; Mukai, T T

Publication Date: 2019-12

Variant appearance in text: TNFRSF1A: C59R

PubMed Link: 31429073

Variant Present in the following documents:

• Main text

View BVdb publication page

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Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology

Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A

Publication Date: 2017

Variant appearance in text: TNFRSF1A: Cys59Arg

PubMed Link: 28421071

Variant Present in the following documents:

• Main text
• fimmu-08-00344.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TNFRSF1A: C59R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.

Annals Of The Rheumatic Diseases

Lachmann, H J HJ; Papa, R R; Gerhold, K K; Obici, L L; Touitou, I I; Cantarini, L L; Frenkel, J J; Anton, J J; Kone-Paut, I I; Cattalini, M M; Bader-Meunier, B B; Insalaco, A A; Hentgen, V V; Merino, R R; Modesto, C C; Toplak, N N; Berendes, R R; Ozen, S S; Cimaz, R R; Jansson, A A; Brogan, P A PA; Hawkins, P N PN; Ruperto, N N; Martini, A A; Woo, P P; Gattorno, M M; ,

Publication Date: 2014-12

Variant appearance in text: TNFRSF1A: Cys59Arg

PubMed Link: 23965844

Variant Present in the following documents:

• Main text
• annrheumdis-2013-204184.pdf

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Guidelines for the genetic diagnosis of hereditary recurrent fevers.

Annals Of The Rheumatic Diseases

Shinar, Y Y; Obici, L L; Aksentijevich, I I; Bennetts, B B; Austrup, F F; Ceccherini, I I; Costa, J M JM; De Leener, A A; Gattorno, M M; Kania, U U; Kone-Paut, I I; Lezer, S S; Livneh, A A; Moix, I I; Nishikomori, R R; Ozen, S S; Phylactou, L L; Risom, L L; Rowczenio, D D; Sarkisian, T T; van Gijn, M E ME; Witsch-Baumgartner, M M; Morris, M M; Hoffman, H M HM; Touitou, I I; ,

Publication Date: 2012-10

Variant appearance in text: TNFRSF1A: C59R

PubMed Link: 22661645

Variant Present in the following documents:

• Main text
• annrheumdis-2011-201271.pdf

View BVdb publication page

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