Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC3
Variant:p.I268T
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EXOSC3

NM_016042.4:p.I268T

Associated Papers

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

Guan C et al.

Pediatric Rheumatology Online Journal, 2025

Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.

Govindaraj GM et al.

Plos One, 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."