Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene
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Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene
Jon Moulton Mon Feb 02, 2015 12:40 pm
Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu X, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ. Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. Hum Mol Genet. 2015 Jan 23. pii: ddv022. [Epub ahead of print]
Last edited by Jon Moulton on Mon Feb 02, 2015 12:41 pm; edited 1 time in total (Reason for editing : Fix URL)
Jon Moulton- Posts : 5721
Join date : 2010-03-12
Age : 61
Location : Philomath, Oregon, USA -
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