Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC2
Variant:p.F381S
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SPTLC2

NM_004863.4:p.F381S

Associated Papers

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Antoniadi T et al.

Bmc Medical Genetics, 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."