Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family

Shumaila Zulfiqar, Abubakar Moawia, Syeda Seema Waseem, Zafar Ali, Shafaq Ramzan, Iram Anjum, Shahid Mahmood Baig, Muhammad Tariq

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Biochemistry, Genetics and Molecular Biology