Pathogenic variants in non-protein-coding sequences

Clinical Genetics

Volumn 84, Issue 5, 2013, Pages 422-428

  Makrythanasis, P ^a   Antonarakis, Se ^a,b  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

Enhancers; lncRNA; miRNA; Non coding sequences; Pathogenic variants; Promoters

Indexed keywords

DOUBLE STRANDED RNA; LONG UNTRANSLATED RNA; MESSENGER RNA; MICRORNA; RNA INDUCED SILENCING COMPLEX; SMALL NUCLEAR RNA; SMALL NUCLEOLAR RNA; SMALL UNTRANSLATED RNA; UNTRANSLATED RNA;

3' UNTRANSLATED REGION; AMINO ACID SEQUENCE; CHROMATIN ASSEMBLY AND DISASSEMBLY; DNA SEQUENCE; GENE CONTROL; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE TARGETING; GENETIC VARIABILITY; GENOME; HAPLOINSUFFICIENCY; HETEROZYGOSITY; HUMAN; NONHUMAN; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROCESSING; REVIEW; RNA SPLICING;

ENHANCERS; LNCRNA; MIRNA; NON-CODING SEQUENCES; PATHOGENIC VARIANTS; PROMOTERS;

CRANIOFACIAL ABNORMALITIES; DNA, INTERGENIC; ENHANCER ELEMENTS, GENETIC; GENOME, HUMAN; HUMANS; LIMB DEFORMITIES, CONGENITAL; MICRORNAS; OPEN READING FRAMES; PROMOTER REGIONS, GENETIC; PSEUDOGENES; RNA, LONG NONCODING; SEQUENCE ANALYSIS, DNA; SPINOCEREBELLAR DEGENERATIONS;

EID: 84885834870     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12272     Document Type: Review

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