Associated Papers
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis.
Wang R et al.
Briefings in Bioinformatics, 2023
Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family.
Sedaghat-Hamedani F et al.
International Journal of Molecular Sciences, 2022
Pathological Features of Lamin Cardiomyopathy.
Kawano H et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2020
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