Associated Papers
Rare Variants of the SMN1 Gene Detected during Neonatal Screening.
Akhkiamova M et al.
Genes, 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
Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.
Kraszewski JN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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