Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.A282T
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BSCL2

NM_001122955.4:p.A282T

Associated Papers

Frataxin controls ketone body metabolism through regulation of OXCT1.

Dong YN et al.

Pnas Nexus, 2022

Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.

Scarlino S et al.

International Journal of Molecular Sciences, 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."