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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTAN1

Variant:p.R564H

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SPTAN1

NM_001130438.3:p.R564H

hg38:chr9:128582734 G>A

Associated Papers

Diagnosis and follow-up of a PCDH19 epilepsy patient.

Chen Y et al.

Psychiatric Genetics, 2026

41195782 (PubMed )

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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."