Associated Papers
A novel homozygous initiation codon variant associated with infantile alpha-Bcrystallinopathy in a Chinese family.
Ma K et al.
Molecular Genetics & Genomic Medicine, 2019
31215171 (PubMed )
Supplement: MGG3-7-e825-s001.docx
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia.
Chae H et al.
Experimental & Molecular Medicine, 2014
A novel mutation of ribosomal protein S10 gene in a Japanese patient with diamond-Blackfan anemia.
Yazaki M et al.
Journal of Pediatric Hematology/oncology, 2012
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