Associated Papers
Combined analysis of somatic mutations and gene expression reveals nuclear speckles-associated enhanced stemness in gingivobuccal carcinoma under DNA damage response.
Kumar S et al.
Computational Biology and Chemistry, 2025
40424937 (PubMed )
Supplement: 1-s2.0-S1476927125001732-mmc1.pdf
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
Clinical feature and genetic mutation of KBG syndrome diagnosed in neonatal period: A case report.
Zhang H et al.
Medicine, 2023
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.
Guo L et al.
European Journal of Human Genetics : Ejhg, 2022
35970914 (PubMed )
Supplement: 41431_2022_1171_MOESM3_ESM.xlsx › clinvar_20220413.list3.hg19_mul
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