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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KAT8

Variant:p.K177_D180delFs

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KAT8

NM_032188.3:p.K177_D180delFs

hg38:chr16:31127202 AGTATGTGGAC>A

Associated Papers

Koolen-de Vries syndrome associated with continuous spike-wave in sleep

Khan AQ et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2022

35811432 (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."