Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.L436F
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RYR2

NM_001035.3:p.L436F

Associated Papers

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Chen S et al.

Medrxiv : the Preprint Server for Health Sciences, 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."