Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.S1929N
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ANKRD11

NM_013275.6:p.S1929N

Associated Papers

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

Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature.

Gao F et al.

Journal of Personalized Medicine, 2022

35330407 (PubMed )
Supplement: jpm-12-00407-s001.zip › Table_S2-Clinacal_and_genetic_analysis_of_13_cases_with_missense_variations.pdf

Branding of subjects affected with genetic syndromes of severe short stature in developing countries.

Guevara-Aguirre J et al.

Bmj Case Reports, 2020

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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."