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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTLC2

Variant:p.R450K

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SPTLC2

NM_004863.4:p.R450K

hg38:chr14:77521536 C>T

Associated Papers

Molecular genetics of hereditary sensory neuropathies.

Auer-Grumbach M et al.

Neuromolecular Medicine, 2006

16775373 (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."