Homozygous loss-of-function variants in European cosmopolitan and isolate populations

Human Molecular Genetics

Volumn 24, Issue 19, 2015, Pages 5464-5474

  Kaiser, Vera B ^a   Svinti, Victoria ^a   Prendergast, James G ^c   Chau, You Ying ^a   Campbell, Archie ^b   Patarcic, Inga ^d   Barroso, Inês ^e   Joshi, Peter K ^f   Hastie, Nicholas D ^a   Miljkovic, Ana ^d   Taylor, Martin S ^a   Scotland, Generation ^b   Enroth, Stefan ^g   Memari, Yasin ^e   Kolb Kokocinski, Anja ^e   Wright, Alan F ^a   Gyllensten, Ulf ^g   Durbin, Richard ^e   Rudan, Igor ^f   Campbell, Harry ^f   Polašek, Ozren ^d,f   Johansson, Åsa ^g   Sauer, Sascha ^h   Porteous, David J ^b   Fraser, Ross M ^f,i   Drake, Camilla ^a   Vitart, Veronique ^a   Hayward, Caroline ^a   Semple, Colin A ^a   Wilson, James F ^a,f   more..

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

^d UNIVERSITY OF SPLIT   (Croatia)

^e WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^f UNIVERSITY OF EDINBURGH   (United Kingdom)

^g UPPSALA UNIVERSITY   (Sweden)

^h MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

ⁱ Synpromics Ltd   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN 15; CYCLIC GMP PHOSPHODIESTERASE; G PROTEIN COUPLED RECEPTOR; SCAVENGER RECEPTOR A;

ARTICLE; CLINICAL ARTICLE; EUROPEAN; EXOME; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE SEQUENCE; HOMOZYGOSITY; HOMOZYGOUS LOSS OF FUNCTION MUTATION; HUMAN; INDEL MUTATION; LOSS OF FUNCTION MUTATION; OLFACTORY RECEPTOR; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; CAUCASIAN; GENETIC SELECTION; GENETICS; HOMOZYGOTE; MUTATION;

EUROPEAN CONTINENTAL ANCESTRY GROUP; EXOME; GENE FREQUENCY; HOMOZYGOTE; HUMANS; MUTATION; PHENOTYPE; SELECTION, GENETIC;

EID: 84943755428     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv272     Document Type: Article

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