Interpretation of mRNA splicing mutations in genetic disease: Review of the literature and guidelines for information-theoretical analysis

F1000Research

Volumn 3, Issue , 2014, Pages

  Rogan, Peter K ^b   Caminsky, Natasha ^a   Mucaki, Eliseos J ^a  

^a WESTERN UNIVERSITY   (Canada)

^b UNIVERSITY OF WESTERN ONTARIO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING AFFINITY; BINDING SITE; COMPUTER INTERFACE; COMPUTER PREDICTION; COMPUTER PROGRAM; EXON; GENE CONSTRUCT; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC CONSERVATION; GENETIC DISORDER; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; INFORMATION PROCESSING; INFORMATION SCIENCE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; PRACTICE GUIDELINE; REGULATORY SEQUENCE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW; RNA BINDING; RNA PROCESSING; RNA SPLICING; VALIDATION STUDY;

EID: 84924956195     PISSN: 20461402     EISSN: 1759796X     Source Type: Journal    
DOI: 10.12688/f1000research.5654.1     Document Type: Review

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