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