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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KAT6A

Variant:p.I1407insFs

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KAT6A

NM_006766.5:p.I1407insFs

hg38:chr8:41934000 A>AT

Associated Papers

Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome.

Shim YJ et al.

Pediatric Blood & Cancer, 2026

41449995 (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."