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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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

    Statements

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

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