Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.S429fs
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ANKRD11

NM_013275.6:p.S429fs

Associated Papers

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Peluso F et al.

Journal of Medical Genetics, 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

Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study.

Alfieri P et al.

Journal of Clinical Medicine, 2021

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