Concepedia

Constanza Solis‐Villa

CS

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Publications

2

Citations

185

H-Index

2

Active since

2016

Affiliations

Icahn School of Medicine at Mount Sinai(Current)

Constanza Solis‐Villa is an author at Icahn School of Medicine at Mount Sinai specializing in porphyrias, molecular diagnostic techniques, and genetics.

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Publications per year

2016–2019

2

Publications

2

Acute Intermittent Porphyria: Predicted Pathogenicity of<i>HMBS</i>Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease

Brenden Chen, Constanza Solis‐Villa, Jörg Hakenberg et al. · Human Mutation · 2016 · 162 citations · Full text

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Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria

Brenden Chen, Constanza Solis‐Villa, Angelika Erwin et al. · Journal of Inherited Metabolic Disease · 2019 · 23 citations

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