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

Grading the pathogenicity of <i>BRCA</i>1/2 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...

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Bibliographic Details
Main Authors: Jinyoung Hong, Ji Hyun Kim, Se Hee Ahn, Hyunjung Gu, Suhwan Chang, Woochang Lee, Dae-Yeon Kim, Sail Chun, Won-Ki Min
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Genes
Subjects:
Online Access:https://www.mdpi.com/2073-4425/12/6/810