DOI:
10.1055/s-00033990
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References
Albers CA, Paul DS, Schulze H. , et al.
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
Nat Genet 2012;
44 (04) 435-439 , S1–S2
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