Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.D1704A
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RYR2

NM_001035.3:p.D1704A

Associated Papers

Clinical application of whole-exome sequencing analysis in childhood epilepsy.

Gavaz M et al.

Journal of Neurogenetics, 2024

39654149 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_materials
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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."