Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.T2404_T2407del4
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ANKRD11

NM_013275.6:p.T2404_T2407del4

Associated Papers

Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome.

Carrara A et al.

Cerebellum (london, England), 2024

Ocular manifestations in a cohort of 43 patients with KBG syndrome.

Carter DC et al.

American Journal of Medical Genetics. Part A, 2024

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.

Guo L et al.

European Journal of Human Genetics : Ejhg, 2022

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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."