Varaico: Literature-Extracted Genetic Variants

Gene:CTDSP2
Variant:p.V182insFs
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CTDSP2

NM_005730.4:p.V182insFs

Associated Papers

Case report: Episodic psychosis caused by a novel SCP2 splicing mutation.

Tang H et al.

Frontiers in Neurology, 2023

SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects.

Galano M et al.

Human Genomics, 2022

Peroxisomal disorders.

Aubourg P et al.

Handbook of Clinical Neurology, 2013

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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."