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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC45A1

Variant:p.P560L

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SLC45A1

NM_001080397.3:p.P560L

hg38:chr1:8337897 C>T

Associated Papers

Solute Carrier 45A1: A New Cerebral Glucose Transporter Brain Disorder with Focal Refractory Epilepsy Responsive to Ketogenic Diet and Acetazolamide.

Semal B et al.

Neuropediatrics, 2025

40541196 (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."