Varaico: Literature-Extracted Genetic Variants

Gene:SNUPN
Variant:p.D255E
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SNUPN

NM_005701.4:p.D255E

Associated Papers

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.

Nashabat M et al.

Nature Communications, 2024

Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways.

Cappi C et al.

Translational Psychiatry, 2016

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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."