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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTLC2

Variant:p.R357W

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SPTLC2

NM_004863.4:p.R357W

hg38:chr14:77555407 G>A

Associated Papers

Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy.

Kodal LS et al.

European Journal of Neurology, 2025

40755160 (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."