Associated Papers
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Computational Saturation Mutagenesis to Investigate the Effects of Neurexin-1 Mutations on AlphaFold Structure.
Rhoades R et al.
Genes, 2022
35627176 (PubMed )
Supplement: genes-13-00789-s001.zip › genes-1673742-supplementary.pdf
Rare NRXN1 missense variants identified in autism interfered protein degradation and Drosophila sleeping.
Liu Y et al.
Journal of Psychiatric Research, 2021
Mutation analysis of the NRXN1 gene in a Chinese autism cohort.
Liu Y et al.
Journal of Psychiatric Research, 2012
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