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Paper Details

Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.
Human Mutation
112
2016
Acute Intermittent Porphyria, Acute intermittent porphyria, Autosomal Dominant Disease, CSSVs, HMBS, HMBS Variants, HMBS mutations, Human, NSVs, consensus splice-site variants, dominant disease, hydroxymethylbilane, hydroxymethylbilane synthase, non, predisposing/protective genes
Author NameAffiliation
Rong ChenIcahn School of Medicine at Mount Sinai
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Datasets

Release 1.2