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
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.
Hocking JC et al.
Plos Genetics, 2018
29522511 (PubMed )
Supplement: pgen.1007246.s002.xlsx › Sheet1
Crowdsourced direct-to-consumer genomic analysis of a family quartet.
Corpas M et al.
Bmc Genomics, 2015
26547235 (PubMed )
Supplement: 12864_2015_1973_MOESM3_ESM.xls › TableS2-57Variants
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