Associated Papers
Protein-truncating variants in UQCRC1 are associated with Parkinson's disease: evidence from half-million people.
Jing X et al.
Npj Parkinson's Disease, 2025
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Neehus AL et al.
Cell, 2024
38157855 (PubMed )
Supplement: NIHMS1949155-supplement-MMC1.pdf
Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia.
Bassal MA et al.
Nature Communications, 2022
35551192 (PubMed )
Supplement: 41467_2022_30223_MOESM4_ESM.xlsx › MAF0.005_VariantsWES
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 893.339
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