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Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing

BACKGROUND: The incorrect interpretation of missense and synonymous variants can lead to improper molecular diagnosis and subsequent faulty genetic counselling. The aim of this study was to evaluate the pathogenicity of presumed COL4A3/COL4A4 missense and synonymous variants detected by next-generat...

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Detalles Bibliográficos
Autores principales:	Deng, Haiyue, Zhang, Yanqin, Ding, Jie, Wang, Fang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8977549/ https://www.ncbi.nlm.nih.gov/pubmed/35386907 http://dx.doi.org/10.3389/fmed.2022.838983

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