Varaico: Literature-Extracted Genetic Variants

Gene:SNRPN
Variant:p.R65W
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SNRPN

NM_003097.6:p.R65W

Associated Papers

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

Crenshaw MM et al.

Case Reports in Genetics, 2023

The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.

Pellikaan K et al.

Genes, 2021

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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."