Varaico: Literature-Extracted Genetic Variants

Gene:NRXN1
Variant:p.L204Q
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NRXN1

NM_001330078.2:p.L204Q

Associated Papers

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 › NRXN1

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table1.XLS › Sheet

Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.

Lee CG et al.

Plos One, 2018

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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."