Varaico: Literature-Extracted Genetic Variants

Gene:KAT6A
Variant:p.Q1454fs
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KAT6A

NM_006766.5:p.Q1454fs

Associated Papers

KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.

Singh M et al.

Human Genetics, 2023

KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.

Singh M et al.

Biorxiv : the Preprint Server for Biology, 2023

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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."