Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.D269H
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MVK

NM_000431.4:p.D269H

Associated Papers

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

Boursier G et al.

Journal of Clinical Medicine, 2021

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).

Van Gijn ME et al.

Journal of Medical Genetics, 2018

In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.

Browne C et al.

Annals of Human Genetics, 2015

26420133 (PubMed )
Supplement: supplement_1.zip › Supplementary_Table_S1.xlsx › Sheet1

Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children.

Lainka E et al.

Rheumatology International, 2012

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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."