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Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining

BACKGROUND: Familial transthyretin (TTR) amyloidosis (ATTR) is an autosomal dominant disease with significant phenotypic heterogeneity. Its prevalence in Saudi Arabia has not previously been investigated. An existing exome variant database of Saudi individuals, sequenced to globally investigate rare...

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Detalles Bibliográficos
Autores principales: Abouelhoda, Mohamed, Mohty, Dania, Alayary, Islam, Meyer, Brian F., Arold, Stefan T., Fadel, Bahaa M., Monies, Dorota
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8359098/
https://www.ncbi.nlm.nih.gov/pubmed/34380564
http://dx.doi.org/10.1186/s40246-021-00351-2