Associated Papers
The role of canopy family proteins: biological mechanism and disease function.
Li X et al.
Molecular Biology Reports, 2025
A novel rare variant of CNPY3 from familial NMOSD impairs the TLR-mediated immune response.
Mo Y et al.
Journal of Neuroimmunology, 2023
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1
Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.
Mutoh H et al.
American Journal of Human Genetics, 2018
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