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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTLC1

Variant:p.A20fs

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SPTLC1

NM_006415.4:p.A20fs

hg38:chr9:92112562 AGC>N

Associated Papers

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.

Kölbel H et al.

Genes, 2022

35627278 (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."