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
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.
Sánchez-Rivera FJ et al.
Nature Biotechnology, 2022
35165384 (PubMed )
Supplement: NIHMS1760571-supplement-Supplementary_Table_S2.xlsx › Table_S2C
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