Features of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk COL3A1 Genotypes

Circ Genom Precis Med. 2023 Apr;16(2):e003864. doi: 10.1161/CIRCGEN.122.003864. Epub 2023 Mar 3.

Madeline M Lui¹, Mariya Shadrina^{2

3}, Bruce D Gelb^{2

3}, Amy R Kontorovich^{2

4

5}

¹ Icahn School of Medicine at Mount Sinai (M.M.L.), Icahn School of Medicine at Mount Sinai, New York.
² The Mindich Child Health and Development Institute (M.S., B.D.G., A.R.K.), Icahn School of Medicine at Mount Sinai, New York.
³ Department of Pediatrics (M.S.), Icahn School of Medicine at Mount Sinai, New York.
⁴ Cardiovascular Research Institute (A.R.K.), Icahn School of Medicine at Mount Sinai, New York.
⁵ Institute for Genomic Health (A.R.K.), Icahn School of Medicine at Mount Sinai, New York.

No abstract available

Keywords: clinical risk; domain; electronic health record; frameshift; genotype.

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