Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC1
Variant:p.R329Q
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SPTLC1

NM_006415.4:p.R329Q

Associated Papers

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.

Bansagi B et al.

Journal of Neurology, 2015

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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."