Associated Papers
The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those Predicted.
Chen JM et al.
Current Genomics, 2020
Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.
Carlston CM et al.
American Journal of Medical Genetics. Part A, 2017
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