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Identification of a Splice Variant (c.5074+3A>C) of BRCA1 by RNA Sequencing and TOPO Cloning

Grading the pathogenicity of BRCA1/2 variants has great clinical importance in patient treatment as well as in the prevention and screening of hereditary breast and ovarian cancer (HBOC). For accurate evaluation, confirming the splicing effect of a possible splice site variant is crucial. We report...

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Detalles Bibliográficos
Autores principales:	Hong, Jinyoung, Kim, Ji Hyun, Ahn, Se Hee, Gu, Hyunjung, Chang, Suhwan, Lee, Woochang, Kim, Dae-Yeon, Chun, Sail, Min, Won-Ki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8229931/ https://www.ncbi.nlm.nih.gov/pubmed/34073420 http://dx.doi.org/10.3390/genes12060810

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