Varaico: Literature-Extracted Genetic Variants

Gene:NLGN4X
Variant:p.L593F
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NLGN4X

NM_181332.3:p.L593F

Associated Papers

Does Altered Membrane Glycosylation Contribute to Neurodevelopmental Dysfunction in Autism Spectrum Disorder?

Osterne VJS et al.

Membranes, 2026

Analyses of Human Genetic Data to Identify Clinically Relevant Domains of Neuroligins.

Lehr AW et al.

Genes, 2024

Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.

Fagius J et al.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023

37460866 (PubMed )
Supplement: 10286_2023_963_MOESM2_ESM.xlsx › Variants

Using structural analysis to clarify the impact of single nucleotide variants in neurexin/neuroligin revealed in clinical genomic sequencing.

Xue K et al.

Journal of Biomolecular Structure & Dynamics, 2022

Autism-associated variants of neuroligin 4X impair synaptogenic activity by various molecular mechanisms.

Yumoto T et al.

Molecular Autism, 2020

Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients.

Xu X et al.

Molecular Biology Reports, 2014

Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism.

Volaki K et al.

Psychiatric Genetics, 2013

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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."