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  1. 1
    Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.

    Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome. by Emily Outwin, Gillian Carpenter, Weimin Bi, Marjorie A Withers, James R Lupski, Mark O'Driscoll

    Published 2011-08-01
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  2. 2
    Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.

    Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. by Tomoo Ogi, Sarah Walker, Tom Stiff, Emma Hobson, Siripan Limsirichaikul, Gillian Carpenter, Katrina Prescott, Mohnish Suri, Philip J Byrd, Michiko Matsuse, Norisato Mitsutake, Yuka Nakazawa, Pradeep Vasudevan, Margaret Barrow, Grant S Stewart, A Malcolm R Taylor, Mark O'Driscoll, Penny A Jeggo

    Published 2012-01-01
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