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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RYR2

Variant:p.N2318D

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RYR2

NM_001035.3:p.N2318D

hg38:chr1:237639038 A>G

Associated Papers

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.

Copier JS et al.

Human Molecular Genetics, 2023

36269083 (PubMed )

Supplement: hmg-2022-ce-00559-supplemental-copier_clean_ddac261.docx

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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."