Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.L297I
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MVK

NM_000431.4:p.L297I

Associated Papers

Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort.

Guan C et al.

Pediatric Rheumatology Online Journal, 2025

The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency.

Jeyaratnam J et al.

Pediatric Rheumatology Online Journal, 2022

Haploidentical α/β T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency.

Faraci M et al.

Rheumatology (oxford, England), 2021

Mevalonic aciduria: Does stem cell transplant fully cure disease?

Szymanski AM et al.

Pediatric Transplantation, 2020

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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."