Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. (Q36648083)
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scientific article published on 11 December 2012
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English | Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. |
scientific article published on 11 December 2012 |
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Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. (English)
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Donna M McDonald-McGinn
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Joris R Vermeesch
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Beata A Nowakowska
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Somayyeh Fahiminiya
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Timothée Revil
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Joshua Suhl
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Alice Bailey
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Elisabeth Mlynarski
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David R Lynch
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Albert C Yan
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Larissa T Bilaniuk
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Kathleen E Sullivan
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Stephen T Warren
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Beverly S Emanuel
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Elaine H Zackai
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Loydie A Jerome-Majewska
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11 December 2012
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80-90
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