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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ANKRD11

Variant:p.P1938_F1939delFs

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ANKRD11

NM_013275.6:p.P1938_F1939delFs

hg38:chr16:89280724 TGAAGG>T

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

37586838 (PubMed )

Supplement: jmg-2023-109141supp003.xlsx › ST5

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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."