Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.K256_F257Splc
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MVK

NM_000431.4:p.K256_F257Splc

Associated Papers

Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study.

Yıldız F et al.

Archives of Rheumatology, 2023

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome - PFAPA syndrome.

Wekell P

Presse Medicale (paris, France : 1983), 2019

Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes.

Sighart R et al.

Rheumatology International, 2018

Analysis of protein-coding genetic variation in 60,706 humans.

Lek M et al.

Nature, 2016

27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Tang R et al.

Advances in Bioinformatics, 2016

27313609 (PubMed )
Supplement: 5614058.f1.pdf

Mevalonate kinase gene mutations and their clinical correlations in Behçet's disease.

Arslan Taş D et al.

International Journal of Rheumatic Diseases, 2014

Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL-1β production.

Kolly L et al.

The Journal of Allergy and Clinical Immunology, 2013

Different clinical presentation of the hyperimmunoglobulin D syndrome (HIDS) (four cases from Turkey).

Tas DA et al.

Clinical Rheumatology, 2012

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.

D'Osualdo A et al.

European Journal of Human Genetics : Ejhg, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."