A novel de novo splicing mutation c.1444‐2A>T in the...

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IUBMB Life 2019 / 07

A novel de novo splicing mutation c.1444‐2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome

Abdelwahed, Mayssa, Touraine, Renaud, Ben‐Rhouma, Bochra, Dhieb, Dhoha, Mars, Manel, Kammoun, Khawla, Hachicha, Jamil, Triki, Chahnez, Kamoun, Hassen, Keskes‐Ammar, Leila, Belguith, Neila
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Language:
english
Journal:
IUBMB Life
DOI:
10.1002/iub.2134
Date:
July, 2019
File:
PDF, 4.28 MB
english, 2019
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