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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KMT2A

Variant:p.V2954delFs

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KMT2A

NM_001197104.2:p.V2954delFs

hg38:chr11:118504752 GT>G

Associated Papers

A case of Wiedemann-Steiner syndrome caused by a novel KMT2A c.8862del variant.

Nishida H et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

39840671 (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."