Associated Papers
The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.
Sanjuan-Ruiz I et al.
Molecular Neurodegeneration Advances, 2025
41127441 (PubMed )
Supplement: 44477_2025_4_MOESM2_ESM.xlsx › Sheet1
A novel mutation in PCD-associated gene DNAAF3 causes male infertility due to asthenozoospermia.
Wan F et al.
Journal of Cellular and Molecular Medicine, 2023
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
Mitchison HM et al.
Nature Genetics, 2012
Select a paper to view details