Associated Papers
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S6_ABCA4_variants
Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population.
Nishiguchi KM et al.
Plos One, 2012
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