Associated Papers
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
Thomas Q et al.
Journal of Medical Genetics, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index
Clinical, in silico, and experimental evidence for pathogenicity of two novel splice site mutations in the SH3TC2 gene.
Laššuthová P et al.
Journal of Neurogenetics, 2012
High frequency of SH3TC2 mutations in Czech HMSN I patients.
Laššuthová P et al.
Clinical Genetics, 2011
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