Varaico: Literature-Extracted Genetic Variants

Gene:KAT7
Variant:p.S494G
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KAT7

NM_007067.5:p.S494G

Associated Papers

Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.

Thauvin-Robinet C et al.

European Journal of Human Genetics : Ejhg, 2025

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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."