Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.T243fs
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MVK

NM_000431.4:p.T243fs

Associated Papers

Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.

Bader-Meunier B et al.

Inflammatory Bowel Diseases, 2021

Efficacy of Continuous Interleukin 1 Blockade in Mevalonate Kinase Deficiency: A Multicenter Retrospective Study in 13 Adult Patients and Literature Review.

Deshayes S et al.

The Journal of Rheumatology, 2018

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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."