Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.Y2472*
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ANKRD11

NM_013275.6:p.Y2472*

Associated Papers

Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.

He D et al.

Orphanet Journal of Rare Diseases, 2024

39135054 (PubMed )
Supplement: 13023_2024_3301_MOESM1_ESM.xlsx › Sheet1

Congenital heart defects in molecularly confirmed KBG syndrome patients.

Digilio MC et al.

American Journal of Medical Genetics. Part A, 2022

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

Gnazzo M et al.

American Journal of Medical Genetics. Part A, 2020

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."