Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.Q645*
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ANKRD11

NM_013275.6:p.Q645*

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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