Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy (Q24643967)

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Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy
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    Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy (English)
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    Mary Ellen Ahearn
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    Claus Lenski
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    Kemal O Yariz
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    Heide Hellebrand
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    Michael von Rhein
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    Robin D Clark
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    Lisa Baumbach-Reardon
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    January 2008
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    82
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    1
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    188-93
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