Varaico: Literature-Extracted Genetic Variants

Gene:ELAVL4
Variant:p.S13*
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ELAVL4

NM_001144774.3:p.S13*

Associated Papers

Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsy.

Happ HC et al.

Biorxiv : the Preprint Server for Biology, 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."