Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.L179_H180insFs
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RYR1

NM_000540.3:p.L179_H180insFs

Associated Papers

A novel homozygous intronic variant affecting splicing in the RYR1 gene contributes to fetal hydrops.

Hou W et al.

Genes & Diseases, 2024

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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."