Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy (Q24643967)
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(P1476) "Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy" (language: en)
(P2093) Mary Ellen Ahearn
Claus Lenski
Kemal O Yariz
Heide Hellebrand
Michael von Rhein
Robin D Clark
Lisa Baumbach-Reardon
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