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Paper Details

Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.
Genet Med
4
2022
Arg119His, Glu134Lys, Leu141, MRKHS, Mayer-Rokitansky-Kster-Hauser syndrome, Pro4Ser, TBX6, TBX6 messenger RNA, TBX6 variants, Val249Met, absence of the uterus, cervix, and the upper part of the vagina, c, c., c.422T, c.745G, congenital, messenger RNA, p, variant alleles
Author NameAffiliation
Zeynep Coban AkdemirBaylor College of Medicine
Shalini N JhangianiBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Antigone S DimasInstitute for Bioinnovation, Biomedical Sciences Research Center Alexander Fleming
Pengfei LiuBaylor College of Medicine
Stylianos E AntonarakisUniversity of Geneva Medical School, Switzerland Institute of Genetics and Genomics in Geneva, University of Geneva
Jennifer E PoseyBaylor College of Medicine
James R LupskiBaylor College of Medicine, TX Texas Children's Hospital
James R LupskiBaylor College of Medicine, TX Texas Children's Hospital
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