Associated Papers
Novel exomic rare variants associated with venous thrombosis.
Deguchi H et al.
British Journal of Haematology, 2020
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.
Tarailo-Graovac M et al.
Molecular Genetics & Genomic Medicine, 2019
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
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