Standardized phenotyping enhances Mendelian disease gene identification

Nature Genetics

Volumn 47, Issue 11, 2015, Pages 1222-1224

  Vissers, Lisenka E L M ^a   Veltman, Joris A ^a,b  

^a RADBOUD UNIVERSITY   (Netherlands)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GENE IDENTIFICATION; GENE MUTATION; GENE ONTOLOGY; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SUSCEPTIBILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HIGH THROUGHPUT SCREENING; HUMAN; HUMAN PHENOTYPE ONTOLOGY; MENDELIAN DISEASE; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SHORT SURVEY; STATISTICAL ANALYSIS; DEVELOPMENTAL DISORDER; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; PROCEDURES; RECESSIVE GENE;

DEVELOPMENTAL DISABILITIES; FEMALE; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE;

EID: 84945401367     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3425     Document Type: Short Survey

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