Associated Papers
Association of LRRK2 p.A419V with Parkinson's Disease in East Asians and analysis of age at onset.
Lim KS et al.
Npj Parkinson's Disease, 2026
41629305 (PubMed )
Supplement: 41531_2026_1265_MOESM2_ESM.xlsx › Supplementary_Table_9
LRRK2 rare-variant per-domain genetic burden in Parkinson's Disease: association confined to the kinase domain.
Parlar SC et al.
Npj Parkinson's Disease, 2025
40301370 (PubMed )
Supplement: 41531_2025_934_MOESM1_ESM.xlsx › Supplementary_Data_3
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.
Zhu Y et al.
European Journal of Human Genetics : Ejhg, 2024
38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1
SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa.
Chiereghin C et al.
Frontiers in Genetics, 2021
33643381 (PubMed )
Supplement: Table_3.xlsx › Foglio1
Select a paper to view details