Associated Papers
Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.
Mantere T et al.
Plos Genetics, 2016
26820313 (PubMed )
Supplement: pgen.1005816.s004.xlsx › Sheet1
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.
Fukami M et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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