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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHKA

Variant:p.F5insFs

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CHKA

NM_001277.3:p.F5insFs

hg38:chr11:68121163 G>GA

Associated Papers

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.

Klöckner C et al.

Brain : a Journal of Neurology, 2022

35202461 (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."