Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.E1904_G1905insFs
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ANKRD11

NM_013275.6:p.E1904_G1905insFs

Associated Papers

Congenital heart defects in molecularly confirmed KBG syndrome patients.

Digilio MC et al.

American Journal of Medical Genetics. Part A, 2022

Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study.

Alfieri P et al.

Journal of Clinical Medicine, 2021

KBG syndrome: Common and uncommon clinical features based on 31 new patients.

Gnazzo M et al.

American Journal of Medical Genetics. Part A, 2020

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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."