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The top documents tagged [splicing mutations]
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Prof. Giacomo P. Comi Centro Dino Ferrari, Dipartimento di Scienze Neurologiche Università degli Studi di Milano, Fondazione Ospedale Maggiore Policlinico,
219 views
Health & Medicine
Neurofibromatosis type I
1.339 views
Healthcare
Fabry disease
358 views
Health & Medicine
"The role of the nuclear factor TDP 43 in neurodegeneration" by Francisco E. Baralle
609 views
Healthcare
RNA splicing mutations and human disease: Pompe disease
289 views
Documents
1 A multi-species comparative structural bioinformatics analysis of inherited mutations in -D-Mannosidase reveals strong genotype-phenotype correlation
221 views
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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
217 views
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Javed Mohammed Khan and Shoba Ranganathan
50 views