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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RYR1

Variant:p.F1089_E1090insT

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RYR1

NM_000540.3:p.F1089_E1090insT

hg38:chr19:38467696 T>TNNN

Associated Papers

NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.

Malfatti E et al.

Clinical Genetics, 2025

40000157 (PubMed )

Supplement: CGE-108-318-s003.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."