Varaico: Literature-Extracted Genetic Variants

Gene:NEUROD2
Variant:p.H268Q
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NEUROD2

NM_006160.4:p.H268Q

Associated Papers

Knockdown of NeuroD2 leads to seizure-like behavior, brain neuronal hyperactivity and a leaky blood-brain barrier in a Xenopus laevis tadpole model of DEE75.

Banerjee S et al.

Genetics, 2024

Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.

Runge K et al.

Molecular Psychiatry, 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."