Associated Papers
Clinicohematological and molecular analysis of hemoglobin D syndrome and unknown variants in the hemoglobinopathy spectrum of Sindh, Pakistan.
Tashfeen S et al.
Plos One, 2025
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
Guelly C et al.
Peerj, 2021
33552729 (PubMed )
Supplement: peerj-09-10711-s004.xlsx › found_rows_58_in_KCG
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
Johnson K et al.
Orphanet Journal of Rare Diseases, 2017
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