Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.L135*
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KANSL1

NM_015443.4:p.L135*

Associated Papers

Clinical and genetic characteristics of a case of Koolen-De Vries syndrome caused by KANSL1 gene mutation and literature review: A case report.

Zhang H et al.

Medicine, 2024

De novo missense variants in FBXO11 alter its protein expression and subcellular localization.

Gregor A et al.

Human Molecular Genetics, 2022

34505148 (PubMed )
Supplement: table_s1_050721_ddab265.xlsx › current_study
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