Associated Papers
Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophy.
Leow DM et al.
The Journal of Clinical Investigation, 2024
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.
Blasco-Pérez L et al.
Human Mutation, 2021
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