Varaico: Literature-Extracted Genetic Variants

Gene:NRXN1
Variant:p.V138insFs
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NRXN1

NM_001330078.2:p.V138insFs

Associated Papers

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

van der Knoop MM et al.

Brain : a Journal of Neurology, 2022

35373813 (PubMed )
Supplement: awac116_supplementary_data.zip › brain-2021-02009-File006.pdf

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM6_ESM.xlsx › Supplementary_Data_4
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