Varaico: Literature-Extracted Genetic Variants

Gene:NLGN4X
Variant:p.E418delFs
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NLGN4X

NM_181332.3:p.E418delFs

Associated Papers

Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization.

Kopp N et al.

American Journal of Medical Genetics. Part A, 2021

GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability.

Bonnet-Brilhault F et al.

Molecular Psychiatry, 2016

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

de Brouwer AP et al.

Human Mutation, 2007

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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."