Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC1
Variant:p.S340L
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SPTLC1

NM_006415.4:p.S340L

Associated Papers

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Grunseich C et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2021

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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."