Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature
Selinda Mascarenhas(Manipal Academy of Higher Education), Anju Shukla(Manipal Academy of Higher Education), Swasti Pal(Sir Ganga Ram Hospital), Suvasini Sharma(Lady Hardinge Medical College), Ratna Dua Puri(Sir Ganga Ram Hospital), Lakshmi Priya Rao(Manipal Academy of Higher Education), Purvi Majethia(Manipal Academy of Higher Education), Mayuri Yeole(Manipal Academy of Higher Education), Shahyan Siddiqui(Yashoda Hospital), Michelle C. do Rosario(Manipal Academy of Higher Education), Praveen Kumar Barala(Lady Hardinge Medical College), Karthik Vijay Nair(Manipal Academy of Higher Education)
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