Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.H1256_K1257delFs
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ANKRD11

NM_013275.6:p.H1256_K1257delFs

Associated Papers

KBG syndrome complicated with chylothorax in a newborn: a case report and literature review.

Wang Y et al.

Frontiers in Pediatrics, 2025

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_MOESM3_ESM.xlsx › Sheet1

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

35970914 (PubMed )
Supplement: 41431_2022_1171_MOESM3_ESM.xlsx › clinvar_20220413.list3.hg19_mul

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.

Bestetti I et al.

International Journal of Molecular Sciences, 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."