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1. A novel homozygous ALMS1 protein truncation mutation (c.2938dupA) revealed variable clinical expression among Saudi Alström syndrome patients

Author

Bdier, Amnah Yousuf, primary, Al-Qahtani, Faten Abdullah, additional, Kumar Verma, Prashant, additional, Alshoaibi, Naeem Abdulmoneem, additional, Mohammed Alrayes, Nuha, additional, Shaik, Noor Ahmad, additional, Foo, Roger Sik Yin, additional, Bhuiyan, Zahurul Alam, additional, and Al-Aama, Jumana Y., additional

Published
2020
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