Associated Papers
Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.
Milanowski LM et al.
International Journal of Molecular Sciences, 2022
35806091 (PubMed )
Supplement: ijms-23-07086-s001.zip › Supplementary_Table_S1.xlsx › Heterozygotes
Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.
Teerlink CC et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022
34151536 (PubMed )
Supplement: ALZ-18-307-s002.xlsx › Predicted_Deleterious_Filter
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
Castilla-Vallmanya L et al.
International Journal of Molecular Sciences, 2021
33557041 (PubMed )
Supplement: ijms-22-01549-s001.zip › Suppl_Files › Suppl_Table2_Patient_2_Variants.xlsx › Hoja1
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL3
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