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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC52A3

Variant:p.L221delFs

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SLC52A3

NM_033409.4:p.L221delFs

hg38:chr20:763908 CA>C

Associated Papers

Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies.

Carreau C et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2020

33087424 (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."