Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy by Ramser Juliane, Ahearn Mary Ellen, Lenski Claus, Yariz Kemal O, Hellebrand Heide, von Rhein Michael, Clark Robin D, Schmutzler Rita K, Lichtner Peter, Hoffman Eric P, Meindl Alfons, Baumbach-Reardon Lisa in American journal of human genetics (2008).

[PMID: 18179898] PubMed


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