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Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

Sinem Yalcintepe1, Selma Demir1, Emine Ikbal Atli1

  • 1Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.

Global Medical Genetics
|September 17, 2020
PubMed

Keywords:
Marfan syndromenext-generation sequencingnovel variation

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