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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ANKRD11

Variant:p.T634_H636del0

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ANKRD11

NM_013275.6:p.T634_H636del0

hg38:chr16:89284634 GTGTTTT>G

Associated Papers

KBG syndrome: report and follow-up on three unrelated patients observed at different ages.

Serra G et al.

Italian Journal of Pediatrics, 2025

39985057 (PubMed )

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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."