A Y328C missense mutation in spermine synthase causes a mild form of Snyder–Robinson syndrome.
Zhang, Zhe; Norris, Joy; Kalscheuer, Vera; Wood, Tim; Wang, Lin; Schwartz, Charles; Alexov, Emil; Van Esch, Hilde; Human Molecular Genetics, 2013, vol. 22, issue 18, p 3789, ISSN 09646906. ISBN 14602083.

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