Comprehensive Registration of DNA Sequence Variants Associated with Inherited Retinal Diseases in Leiden Open Variation Databases

Human Mutation

Volumn 35, Issue 1, 2014, Pages 147-148

  Cremers, Frans P M ^a,b,c   den Dunnen, Johan T ^d   Ajmal, Muhammad ^a,c   Hussain, Alamdar ^c   Preising, Markus N ^e   Daiger, Stephen P ^f   Qamar, Raheel ^c,g  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Department of Electrical Computer Engineering   (Pakistan)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e JUSTUS LIEBIG UNIVERSITY   (Germany)

^f UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^g ISRA UNIVERSITY   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BARDET BIEDL SYNDROME; DATA BASE; DNA SEQUENCE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HIGH THROUGHPUT SEQUENCING; INFORMATION RETRIEVAL; NOMENCLATURE; NORRIE DISEASE; PRACTICE GUIDELINE; PREVENTIVE HEALTH SERVICE; PRIORITY JOURNAL; PROTEIN FUNCTION; REGISTRATION; RETINA DISEASE; RETINITIS PIGMENTOSA; USHER SYNDROME;

BASE SEQUENCE; DATABASES, GENETIC; EYE DISEASES, HEREDITARY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; MUTATION; REGISTRIES; RETINAL DISEASES;

EID: 84890801301     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22458     Document Type: Article

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