Varaico: Literature-Extracted Genetic Variants

Gene:NRXN1
Variant:p.G960Splc
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NRXN1

NM_001330078.2:p.G960Splc

Associated Papers

Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder.

Srinath S et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025

Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review.

Castronovo P et al.

Clinical Genetics, 2020

Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression.

Rochtus AM et al.

Cold Spring Harbor Molecular Case Studies, 2019

Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders.

Duong L et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2012

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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."