Varaico: Literature-Extracted Genetic Variants

Gene:MAU2
Variant:p.C50S
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MAU2

NM_015329.4:p.C50S

Associated Papers

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Parenti I et al.

Medrxiv : the Preprint Server for Health Sciences, 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."