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

Madeline M. Lui; Mariya Shadrina; Bruce D. Gelb; Amy R. Kontorovich

doi:10.1161/CIRCGEN.122.003864

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

Madeline M. Lui, Mariya Shadrina, Bruce D. Gelb, Amy R. Kontorovich

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Original language	English
Pages (from-to)	E003864
Journal	Circulation. Genomic and precision medicine
Volume	16
Issue number	2
DOIs	https://doi.org/10.1161/CIRCGEN.122.003864
State	Published - 1 Apr 2023

Keywords

clinical risk
domain
electronic health record
frameshift
genotype

Access to Document

10.1161/CIRCGEN.122.003864

Cite this

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title = "Features of Vascular Ehlers-Danlos Syndrome among Biobank Participants Harboring Predicted High-Risk COL3A1 Genotypes",

keywords = "clinical risk, domain, electronic health record, frameshift, genotype",

author = "Lui, {Madeline M.} and Mariya Shadrina and Gelb, {Bruce D.} and Kontorovich, {Amy R.}",

note = "Funding Information: This study was supported by the grant support from the National Institute of Health/ National Heart, Lung, and Blood Institute (NHLBI) to Dr Gelb (HL135742) and Dr Kontorovich (HL140083). ",

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AU - Lui, Madeline M.

AU - Shadrina, Mariya

AU - Gelb, Bruce D.

AU - Kontorovich, Amy R.

N1 - Funding Information: This study was supported by the grant support from the National Institute of Health/ National Heart, Lung, and Blood Institute (NHLBI) to Dr Gelb (HL135742) and Dr Kontorovich (HL140083).

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KW - electronic health record

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AN - SCOPUS:85152976125

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