Varaico: Literature-Extracted Genetic Variants

Gene:CAPRIN1
Variant:p.S498_K499delFs
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CAPRIN1

NM_005898.5:p.S498_K499delFs

Associated Papers

Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.

Veltra D et al.

Expert Review of Molecular Diagnostics, 2023

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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."