Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.S1260*
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ANKRD11

NM_013275.6:p.S1260*

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

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

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