Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.K1257fs
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ANKRD11

NM_013275.6:p.K1257fs

Associated Papers

Early-Onset Parkinson's Disease in a Patient With a De Novo Frameshift Variant of the ANKRD11 Gene and KBG Syndrome.

Stefanou MI et al.

Journal of Clinical Neurology (seoul, Korea), 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_MOESM1_ESM.xlsx › Sheet1

Clinical and genetic characteristics of Keishi-Bukuryo-Gan syndrome: an analysis of 5 cases.

Wang S et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2021

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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."