Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.I1963fs
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ANKRD11

NM_013275.6:p.I1963fs

Associated Papers

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.

Aukema SM et al.

American Journal of Medical Genetics. Part A, 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

Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review.

Kim SJ et al.

Frontiers in Genetics, 2020

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