Varaico: Literature-Extracted Genetic Variants

Gene:AMZ1
Variant:p.V227A
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AMZ1

NM_001384743.1:p.V227A

Associated Papers

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

Priest JR et al.

Plos Genetics, 2016

27058611 (PubMed )
Supplement: pgen.1005963.s011.pdf

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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