Associated Papers
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.
Oh RY et al.
Hgg Advances, 2024
38659227 (PubMed )
Supplement: mmc2.xlsx › Table_S2
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
O'Donohue MF et al.
Blood, 2022
35213692 (PubMed )
Supplement: 10.1182-2021011846_bloodbld2021011846-suppl1.pdf
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Scheipl S et al.
Therapeutic Advances in Medical Oncology, 2021
34367342 (PubMed )
Supplement: sj-xlsx-1-tam-10.1177_17588359211029125.xlsx › FMI_Archer
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
Saleheen D et al.
Nature, 2017
28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1
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