Associated Papers
Predisposing deleterious variants in the cancer-associated human kinases in the global populations.
Khan SA et al.
Plos One, 2024
38635549 (PubMed )
Supplement: pone.0298747.s003.xlsx › ExAC_deleterious_SNPs
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
Caparros-Martin JA et al.
Molecular Genetics & Genomic Medicine, 2017
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