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Yazmin Enchategui-Colon

Clinical Assistant Professor · University of Oklahoma College of Medicine

Credentials: · · · · · · ·

History

University of Oklahoma College of Medicine
Present

Internal Medicine
2014–2017
Doctor of Medicine
2007–2011

Research

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy
Human Mutation · 2020 · 42 citations
Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I
JIMD Reports · 2019 · 8 citations
Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate…
Case report · Molecular Genetics and Metabolism Reports · 2022 · 6 citations

Danielle DeMarzo
2 papers
Hsin-Ti Lin
2 papers · 2 as a fellow
JW
James Weisfeld-Adams
2 papers
AG
Adolfo Garnica
1 paper
Anna Hurst
1 paper
Arthur Beaudet
1 paper
Austin Larson
1 paper
Csaba Galambos
1 paper
Deborah Liptzin
1 paper
Douglas Bush
1 paper
Elizabeth Roeder
1 paper
James Lupski
1 paper