Associated Papers
TMEM175, SCARB2 and CTSB associations with Parkinson's disease risk across populations.
Sun W et al.
Npj Parkinson's Disease, 2025
Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.
Coll M et al.
Plos One, 2017
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
Berkovic SF et al.
American Journal of Human Genetics, 2008
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