Associated Papers
Abnormal Splicing of GALC Transcripts Underlies Unusual Cases of Krabbe Disease.
Domínguez-Ruiz M et al.
Biomedicines, 2025
Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature.
Su Y et al.
Neurocase, 2024
RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders.
He WB et al.
Journal of Medical Genetics, 2022
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