Associated Papers
Abnormal Splicing of GALC Transcripts Underlies Unusual Cases of Krabbe Disease.
Domínguez-Ruiz M et al.
Biomedicines, 2025
Single-cell exome sequencing reveals polyclonal seeding and TRPS1 mutations in colon cancer metastasis.
Cai J et al.
Signal Transduction and Targeted Therapy, 2024
39307879 (PubMed )
Supplement: 41392_2024_1960_MOESM6_ESM.xlsx › Table_S5
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.
Musumeci A et al.
Biomedicines, 2022
36140376 (PubMed )
Supplement: biomedicines-10-02276-s001.zip › Supplementary_Table_S2.xlsx › 5078-NP1688_Leuko_v1-full
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.
Dimitriou E et al.
Jimd Reports, 2016
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