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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC25A1

Variant:p.P281L

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SLC25A1

NM_005984.5:p.P281L

hg38:chr22:19176224 G>A

Associated Papers

Congenital Myasthenic Syndrome Associated With SLC25A1 Gene Variant: The First Reported Case in Saudi Arabia.

Alzahrani AYB et al.

Cureus, 2023

37033560 (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."