Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Por um escritor misterioso
Last updated 08 julho 2024
CREBBP - Wicipedia
Systematic Analysis of Splice-Site-Creating Mutations in Cancer - ScienceDirect
Layout of SplicePie. Light-gray boxes indicate the files
Comprehensive characterisation of intronic mis-splicing mutations in human cancers
Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint - ScienceDirect
Molecular and genetic dissection of recursive splicing
Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report, BMC Medical Genomics
Splicing mutations in human genetic disorders: examples, detection, and confirmation
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint - ScienceDirect
Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation: Molecular Therapy - Nucleic Acids
Comprehensive characterisation of intronic mis-splicing mutations in human cancers
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