Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.A141fs
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MVK

NM_000431.4:p.A141fs

Associated Papers

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

Boursier G et al.

Journal of Clinical Medicine, 2021

HLA class I restricted epitopes prediction of common tumor antigens in white and East Asian populations: Implication on antigen selection for cancer vaccine design.

Hu W et al.

Plos One, 2020

32106223 (PubMed )
Supplement: pone.0229327.s001.xlsx › mutation_abbreviation

Recurrent Neoantigens in Colorectal Cancer as Potential Immunotherapy Targets.

Chen C et al.

Biomed Research International, 2020

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Gaggiano C et al.

Mediators of Inflammation, 2019

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.

Papa R et al.

Orphanet Journal of Rare Diseases, 2017

Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.

Kellner U et al.

Ophthalmic Genetics, 0

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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."