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Paper Details

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Am J Hum Genet
34
2018
Arg655Gln, Congenital Anomalies, Developmental Delay, Dysmorphic Features, ERK1/2, TRAF7, TRAF7 mutations, TRAF7 variants, amino acids, c.1964G, congenital heart defects, developmental delay, dysmorphic features, germline, human, limb and digital anomalies, multisystem disorder
Author NameAffiliation
Ellen MacnamaraNational Institutes of Health
Neil A HanchardBaylor College of Medicine, USA Texas Children's Hospital
Lynne A WolfeNational Institutes of Health, USA Office of the Clinical Director, National Human Genome Research Institute
Lynne A WolfeNational Institutes of Health, USA Office of the Clinical Director, National Human Genome Research Institute
Colleen WahlNational Institutes of Health
Cynthia J TifftNational Institutes of Health
Cynthia J TifftNational Institutes of Health
Camilo ToroNational Institutes of Health
Jonathan A BernsteinStanford University School of Medicine
Lakshmi AnanthUniversity of Alabama
Pengfei LiuBaylor College of Medicine
Yaping YangBaylor College of Medicine
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