Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.A21V
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MVK

NM_000431.4:p.A21V

Associated Papers

Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.

Boursier G et al.

Journal of Clinical Medicine, 2021

National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.

Tanaka T et al.

Modern Rheumatology, 2019

Hyperimmunoglobulin D syndrome in an Indian family undiagnosed for 11 years.

Abdulla MC et al.

International Journal of Rheumatic Diseases, 2017

Hereditary autoinflammatory syndromes: a Brazilian multicenter study.

Jesus AA et al.

Journal of Clinical Immunology, 2012

Novel mutations causing hyperimmunoglobulin D and periodic fever syndrome.

Sinha A et al.

Indian Pediatrics, 2012

Hyperimmunoglobulin E syndrome.

Pherwani AV et al.

Indian Pediatrics, 2001

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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."