Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
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| Description | scientific article |
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author: Dirk S Paul Cedric Ghevaert Ana Cvejic Willem H. Ouwehand Kathleen Freson Paul Bertone Panos Deloukas Myrto Kostadima Ruth Newbury-Ecob |
| Publication date | February 26, 2012 |
| Language | English |
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