Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.I268V
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MVK

NM_000431.4:p.I268V

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

Mevalonate kinase deficiency in a familial Mediterranean fever endemic region: a single-center experience.

Kılıç Könte E et al.

The Turkish Journal of Pediatrics, 2025

A rare cause of AA amyloidosis and end-stage kidney failure: Answers.

Taşdemir M et al.

Pediatric Nephrology (berlin, Germany), 2019

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Martorana D et al.

Frontiers in Immunology, 2017

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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."