Varaico: Literature-Extracted Genetic Variants

Gene:SKIC2
Variant:p.L403F
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SKIC2

NM_006929.5:p.L403F

Associated Papers

Case Report: A Novel de novo Mutation in DNM1L Presenting With Developmental Delay, Ataxia, and Peripheral Neuropathy.

Wei Y et al.

Frontiers in Pediatrics, 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."