Varaico: Literature-Extracted Genetic Variants

Gene:CSDE1
Variant:p.K348fs
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CSDE1

NM_001242891.2:p.K348fs

Associated Papers

A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents.

Gangfuß A et al.

American Journal of Medical Genetics. Part A, 2022

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.

Guo H et al.

Science Advances, 2019

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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."