The continuum of causality in human genetic disorders

Genome Biology

Volumn 17, Issue 1, 2016, Pages

  Katsanis, Nicholas ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H; COMPLEMENT FACTOR I; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FERROCHELATASE; FIBROBLAST GROWTH FACTOR RECEPTOR 1; MELANOCORTIN 4 RECEPTOR;

ACROCEPHALOSYNDACTYLY; ALLELE; ARTICLE; AUTISM; BARDET BIEDL SYNDROME; CAUSALITY; CONGENITAL CORNEA DYSTROPHY; ENVIRONMENTAL FACTOR; EXOME; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GAIN OF FUNCTION MUTATION; GENE FREQUENCY; GENE LOCUS; GENETIC DISORDER; GENETIC TRAIT; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN GENETICS; KALLMANN SYNDROME; LOSS OF FUNCTION MUTATION; MECKEL SYNDROME; MONOGENIC DISORDER; ONCOGENE RET; PHENOTYPE; RARE DISEASE; GENETIC PREDISPOSITION; GENETICS; HUMAN GENOME; MEDICAL GENETICS; PEDIGREE; POPULATION GENETICS; TRENDS;

ALLELES; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENETICS, MEDICAL; GENETICS, POPULATION; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HUMANS; PEDIGREE; RARE DISEASES;

EID: 84997525141     PISSN: 14747596     EISSN: 1474760X     Source Type: Journal    
DOI: 10.1186/s13059-016-1107-9     Document Type: Article

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