Varaico: Literature-Extracted Genetic Variants

Gene:MAU2
Variant:p.A3_A8del0
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MAU2

NM_015329.4:p.A3_A8del0

Associated Papers

Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy.

Peng Y et al.

Molecular Genetics & Genomic Medicine, 2024

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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."