Varaico: Literature-Extracted Genetic Variants

Gene:GBE1
Variant:p.G540Splc
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GBE1

NM_000158.4:p.G540Splc

Associated Papers

The first case of a competitive basketball player affected by carnitine palmitoyl transferase II deficiency presenting an undescribed compound heterozygous genetic mutation.

Crisafulli O et al.

European Journal of Applied Physiology, 2025

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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."