Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L1BP
Variant:p.S133R
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MAD2L1BP

NM_014628.3:p.S133R

Associated Papers

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.

Dawkins JL et al.

Nature Genetics, 2001

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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."