Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing.
Journal Information
Full Title: J Clin Lab Anal
Abbreviation: J Clin Lab Anal
Country: Unknown
Publisher: Unknown
Language: N/A
Publication Details
Subject Category: Clinical Laboratory Techniques
Available in Europe PMC: Yes
Available in PMC: Yes
PDF Available: No
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"CONFLICT OF INTEREST STATEMENT The authors have no conflicts of interest relevant to this study to disclose."
"FUNDING INFORMATION This work was performed as part of the National Project of Bio Big Data. This study was supported by a grant (No. SMO1220671) from Samsung Medical Center. We thank the two patients and their families for participating in this study."
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Last Updated: Aug 05, 2025