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PubMed 23064965 A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations im 1.28 KB 6 0 show
PubMed 27206675 Loss of T-cell quiescence by targeting Slfn2 prevents the development and progression of T-ALL. T-ce 1.42 KB 12 0 show
PubMed 19477142 A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hem 928 Bytes 8 0 show
PubMed 16447768 [Mutational and clinical features of Japanese patients with dysferlinopathy (Miyoshi myopathy and li 1.56 KB 11 0 show
PubMed 27230853 Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessi 1.25 KB 5 0 show
PubMed 23587593 Identification of a cystic fibrosis mutation W19X in Tunisia. Cystic fibrosis (CF) is a common and s 806 Bytes 12 0 show
PubMed 27251469 Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy. INTR 1.11 KB 5 0 show
PubMed 25046452 Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of duchenne muscula 1.28 KB 11 0 show
PubMed 21983717 [Identification of mutations in PKD1 and PKD2 genes in two Chinese families with autosomal dominant 1.29 KB 5 0 show
PubMed 21194947 Variable phenotypes are associated with PMP22 missense mutations. Charcot-Marie-Tooth disease (CMT) 1.01 KB 23 0 show