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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AKAP13

Variant:p.D800_A801delFs

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AKAP13

NM_007200.5:p.D800_A801delFs

hg38:chr15:85580465 TGACG>T

Associated Papers

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.

Buijsse N et al.

Epilepsia Open, 2023

37501353 (PubMed )

Supplement: EPI4-8-1300-s003.xlsx › Blad1

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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."