Varaico: Literature-Extracted Genetic Variants

Gene:SMG1
Variant:p.L183_V184Splc
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SMG1

NM_015092.5:p.L183_V184Splc

Associated Papers

Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.

Zhang YH et al.

Pediatric Research, 2006

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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."