Associated Papers
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.
Li C et al.
The Journal of Clinical Investigation, 2023
37317968 (PubMed )
Supplement: jci-133-168156-s148.xlsx › Table_S2__All_Scores_
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.
Yiş U et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018
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