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Application of Whole Exome Sequencing and Functional Annotations to Identify Genetic Variants Associated with Marfan Syndrome

Marfan syndrome (MFS) is a rare disease that affects connective tissue, which causes abnormalities in several organ systems including the heart, eyes, bones, and joints. The autosomal dominant disorder was found to be strongly associated with FBN1, TGFBR1, and TGFBR2 mutations. Although multiple gen...

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Detalles Bibliográficos
Autores principales:	Lin, Min-Rou, Chang, Che-Mai, Ting, Jafit, Chang, Jan-Gowth, Chou, Wan-Hsuan, Huang, Kuei-Jung, Cheng, Gloria, Chang, Hsiao-Huang, Chang, Wei-Chiao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8878617/ https://www.ncbi.nlm.nih.gov/pubmed/35207686 http://dx.doi.org/10.3390/jpm12020198

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