Varaico: Literature-Extracted Genetic Variants

Gene:NRXN2
Variant:p.R1059Q
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NRXN2

NM_015080.4:p.R1059Q

Associated Papers

Conditional deletion of Neurexin-2 alters neuronal network activity in hippocampal circuitries and leads to spontaneous seizures.

Haile MT et al.

Translational Psychiatry, 2023

36941261 (PubMed )
Supplement: 41398_2023_2394_MOESM5_ESM.xlsx › Sheet1

Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies.

Haviland I et al.

Pediatric Neurology, 2023

Advances in neurexin studies and the emerging role of neurexin-2 in autism spectrum disorder.

Khoja S et al.

Frontiers in Molecular Neuroscience, 2023

36923655 (PubMed )
Supplement: Table_1.XLSX › NRXN2

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

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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."