Improving sequence variant descriptions in mutation databases and literature using the mutalyzer sequence variation nomenclature checker

Human Mutation

Volumn 29, Issue 1, 2008, Pages 6-13

  Wildeman, Martin ^a   Van Ophuizen, Ernest ^a,b   Den Dunnen, Johan T ^a   Taschner, Peter E M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b WAGENINGEN UNIVERSITY   (Netherlands)

Author keywords

Locus specific mutation database; Mutation nomenclature; Sequence variant description check; Software

Indexed keywords

ARTICLE; AUTOANALYSIS; COMPUTER PROGRAM; GENBANK; GENE MUTATION; GENETIC DATABASE; HUMAN; HUMAN GENOME; MEDICAL LITERATURE; NOMENCLATURE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

AMINO ACID SEQUENCE; BASE SEQUENCE; COMPUTATIONAL BIOLOGY; DATABASES, NUCLEIC ACID; DNA MUTATIONAL ANALYSIS; GENOME, HUMAN; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SOFTWARE; TERMINOLOGY AS TOPIC;

EID: 38149063754     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20654     Document Type: Article

References (13)

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