Publications:

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: MEFV: 2064C>G; Tyr688Ter; rs104895098

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_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: MEFV: 2064C>G; rs104895098

PubMed Link: 32082075

Variant Present in the following documents:

• Main text
• MI2019-3293145.pdf

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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: MEFV: Tyr688Ter

PubMed Link: 28421071

Variant Present in the following documents:

• Main text
• fimmu-08-00344.pdf

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Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.

Molecular Genetics & Genomic Medicine

Fujikura, Kohei K

Publication Date: 2015-07

Variant appearance in text: MEFV: Y688X

PubMed Link: 26247045

Variant Present in the following documents:

• mgg30003-0272.pdf

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Pyrin Modulates the Intracellular Distribution of PSTPIP1.

Plos One

Waite, Andrea L AL; Schaner, Philip P; Richards, Neil N; Balci-Peynircioglu, Banu B; Masters, Seth L SL; Brydges, Susannah D SD; Fox, Michelle M; Hong, Arthur A; Yilmaz, Engin E; Kastner, Daniel L DL; Reinherz, Ellis L EL; Gumucio, Deborah L DL

Publication Date: 2009-07-07

Variant appearance in text: FMF: Y688X

PubMed Link: 19584923

Variant Present in the following documents:

• Main text
• pone.0006147.pdf

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