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Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus by Erica L. Lyons, Daniel Watson, Mohammad S. Alodadi, Sharie J. Haugabook, Gregory J. Tawa, Fady Hannah-Shmouni, Forbes D. Porter, Jack R. Collins, Elizabeth A. Ottinger, Uma S. Mudunuri
Published 2023-08-01
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