Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.K804delFs
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ANKRD11

NM_013275.6:p.K804delFs

Associated Papers

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Peluso F et al.

Journal of Medical Genetics, 2023

37586838 (PubMed )
Supplement: jmg-2023-109141supp003.xlsx › ST5

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

Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndrome.

Alfieri P et al.

Brain Sciences, 2019

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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."