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Zhang, C. et al. Two novel mutations of the NCSTN gene in Chinese familial acne inverse.
Isozumi, R. et al. Novel mutations in K13 propeller gene of artemisinin-resistant Plasmodium falciparum.
Robinson, G. et al. Novel mutations target distinct subgroups of medulloblastoma.
Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa.
Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.
Laitinen, A. et al. Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.
Urlinger, S. et al. Exploring the sequence space for tetracycline-dependent transcriptional activators: novel mutations yield expanded range and sensitivity.
Smith, B. N. et al. Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.
Fotiou, E. et al. Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
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CEO of Professional Science Editing for Scientists @ prosciediting.com