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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYNC1H1

Variant:p.A3423V

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DYNC1H1

NM_001376.5:p.A3423V

hg38:chr14:102033339 C>T

Associated Papers

DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.

Wu WC et al.

Seizure, 2024

37903666 (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."