Associated Papers
Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family.
Guo Q et al.
Molecular Genetics & Genomic Medicine, 2022
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
Tsangaris E et al.
Journal of Medical Genetics, 2011
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