Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants

Clinical Genetics

Volumn 91, Issue 5, 2017, Pages 683-689

  Savastano, C P ^a   Brito, L A ^a   Faria, A C ^a   Seto Salvia N ^b,c   Peskett, E ^b   Musso, C M ^a   Alvizi, L ^a   Ezquina, S A M ^a   James, C ^b   GOSgene, ^b   Beales, P ^b   Lees, M ^d   Moore, G E ^b   Stanier, P ^b   Passos Bueno, M R ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

1p22; cleft lip and palate; GWAS; haploinsufficiency; IRF6; nonsense mutations; penetrance; rare variants

Indexed keywords

ARHGAP29 PROTEIN; DNA; PROTEIN; UNCLASSIFIED DRUG; ARHGAP29 PROTEIN, HUMAN; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN;

ALLELE; ARTICLE; CLEFT LIP; CLEFT PALATE; CONTROLLED STUDY; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HAPLOINSUFFICIENCY; HETEROZYGOSITY; HUMAN; INDEL MUTATION; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NON SYNDROMIC CLEFT LIP; PENETRANCE; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; SEQUENCE KERNEL ASSOCIATION TEST; SINGLE NUCLEOTIDE POLYMORPHISM; FEMALE; GENETICS; GENOME-WIDE ASSOCIATION STUDY; MALE; METABOLISM; MUTATION;

CLEFT LIP; CLEFT PALATE; FEMALE; GENOME-WIDE ASSOCIATION STUDY; GTPASE-ACTIVATING PROTEINS; HUMANS; MALE; MUTATION; MUTATION, MISSENSE;

EID: 84995603143     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12823     Document Type: Article

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