Varaico: Literature-Extracted Genetic Variants

Gene:NEUROD2
Variant:p.E130K
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NEUROD2

NM_006160.4:p.E130K

Associated Papers

A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot.

Politano D et al.

Brain & Development, 2023

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

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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."