Varaico: Literature-Extracted Genetic Variants

Gene:CERS1
Variant:p.Q24E
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CERS1

NM_021267.5:p.Q24E

Associated Papers

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.

Badura-Stronka M et al.

Genes, 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."