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
Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.
Fidalgo F et al.
Plos One, 2022
35085295 (PubMed )
Supplement: pone.0262419.s002.xlsx › 288_candidate_variants
Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.
Hebert E et al.
Genes, 2017
29057844 (PubMed )
Supplement: genes-08-00276-s001.pdf
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