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Keywords: Splicing variant
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Articles

Retraction: Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing

Journal: Bioscience Reports
Biosci Rep (2024) 44 (10): BSR-2018-1544_RET.
https://doi.org/10.1042/BSR-2018-1544_RET
Published: 07 October 2024
... © 2024 The Author(s). 2024 This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY) . Bardet-Biedl syndrome BBS5 gene Splicing variant Targeted exome sequencing...
View article titled, Retraction: Novel <span class="search-highlight">splicing</span> <span class="search-highlight">variant</span> c. 208+2T&amp;gt;C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing
Open the PDF for Retraction: Novel <span class="search-highlight">splicing</span> <span class="search-highlight">variant</span> c. 208+2T&gt;C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing in another window
Articles

Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing

Saber Imani, Jingliang Cheng, Jiewen Fu, Abdolkarim Mobasher-Jannat, Chunli Wei, Saman Mohazzab-Torabi, Khosrow Jadidi, Mohammad Hossein Khosravi, Marzieh Dehghan Shasaltaneh, Lisha Yang, Md. Asaduzzaman Khan, Junjiang Fu
Journal: Bioscience Reports
Biosci Rep (2019) 39 (3): BSR20181544.
https://doi.org/10.1042/BSR20181544
Published: 29 March 2019
... with possible BBS based on the presence of three primary features and two secondary features. The TES analysis of the proband with BBS resulted in the identification of a novel, homozygous splicing variant c. 208+2T>C of the BBS5 gene (NM_152384.2) in this Iranian BBS family. This variant was confirmed...
View article titled, Novel <span class="search-highlight">splicing</span> <span class="search-highlight">variant</span> c. 208+2T&amp;gt;C in BBS5 segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing
Open the PDF for Novel <span class="search-highlight">splicing</span> <span class="search-highlight">variant</span> c. 208+2T&gt;C in BBS5 segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing in another window
Includes: Supplementary data