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
Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.
Pitsava G et al.
American Journal of Medical Genetics. Part A, 2021
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