Varaico: Literature-Extracted Genetic Variants

Gene:SNRPN
Variant:p.R25*
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SNRPN

NM_003097.6:p.R25*

Associated Papers

An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader-Willi Syndrome.

Crenshaw MM et al.

Case Reports in Genetics, 2023

Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome.

Huang Y et al.

Journal of Medical Genetics, 2022

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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."