Varaico: Literature-Extracted Genetic Variants

Gene:NAA50
Variant:p.Y31*
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NAA50

NM_025146.4:p.Y31*

Associated Papers

Cornelia de Lange Syndrome as Paradigm of Chromatinopathies.

Parenti I et al.

Frontiers in Neuroscience, 2021

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.

Aoi H et al.

Journal of Human Genetics, 2019

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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."