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The top documents tagged [splicing mutations]
Prof. Giacomo P. Comi Centro Dino Ferrari, Dipartimento di Scienze Neurologiche Università degli Studi di Milano, Fondazione Ospedale Maggiore Policlinico,
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Neurofibromatosis type I
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Fabry disease
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"The role of the nuclear factor TDP 43 in neurodegeneration" by Francisco E. Baralle
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RNA splicing mutations and human disease: Pompe disease
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1 A multi-species comparative structural bioinformatics analysis of inherited mutations in -D-Mannosidase reveals strong genotype-phenotype correlation
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Chapter 11 Newborn Screening. Introduction Newborns can be screened for an increasing variety of conditions on the principle that early detection can
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Javed Mohammed Khan and Shoba Ranganathan
55 views