Associated Papers
Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19.
Takafuji S et al.
Pediatric Hematology and Oncology, 2021
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
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27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table19.xlsx › SI_Table_19
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