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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MVK

Variant:p.N166K

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MVK

NM_000431.4:p.N166K

hg38:chr12:109581521 C>A

Associated Papers

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

Boursier G et al.

Journal of Clinical Medicine, 2021

33917151 (PubMed )

A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness.

Coppola T et al.

Bmc Pediatrics, 2019

31325964 (PubMed )

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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."