Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.R5H
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CALHM3

NM_001129742.2:p.R5H

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

Suppressors of a U4 snRNA mutation define a novel U6 snRNP protein with RNA-binding motifs.

Shannon KW et al.

Genes & Development, 1991

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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."