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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ANKRD11

Variant:p.V2490_I2491Splc

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ANKRD11

NM_013275.6:p.V2490_I2491Splc

hg38:chr16:89275193 T>G

Associated Papers

KBG syndrome.

Morel Swols D et al.

Orphanet Journal of Rare Diseases, 2017

29258554 (PubMed )

Supplement: 13023_2017_736_MOESM1_ESM.xlsx › Sheet1

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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."