Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.V586fs
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ANKRD11

NM_013275.6:p.V586fs

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_MOESM3_ESM.xlsx › Sheet1

A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.

Shangguan H et al.

European Journal of Pediatrics, 2024

Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.

Shangguan H et al.

Frontiers in Pediatrics, 2022

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