Varaico: Literature-Extracted Genetic Variants

Gene:CHRNG
Variant:p.P251L
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CHRNG

NM_005199.5:p.P251L

Associated Papers

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation.

Hong YJ et al.

Journal of Clinical Laboratory Analysis, 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."