Varaico: Literature-Extracted Genetic Variants

Gene:NTNG2
Variant:p.S126insFs
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NTNG2

NM_032536.4:p.S126insFs

Associated Papers

Compound heterozygous mutations of NTNG2 cause intellectual disability via inhibition of the CaMKII signaling.

Chen Y et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2024

Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia.

Heimer G et al.

Human Mutation, 2020

Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features.

Abu-Libdeh B et al.

Neurogenetics, 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."