Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148
about
Adenomatous polyposis coli (APC) membrane recruitment 3, a member of the APC membrane recruitment family of APC-binding proteins, is a positive regulator of Wnt-β-catenin signallingDECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders6q22.1 microdeletion and susceptibility to pediatric epilepsy.The genetics of microdeletion and microduplication syndromes: an update.Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5-6.0 Hz polyspike waves.NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.Copy Number Variations in Candidate Genes and Intergenic Regions Affect Body Mass Index and Abdominal Obesity in Mexican ChildrenInterpreting the role of de novo protein-coding mutations in neuropsychiatric disease.Systems genetics analysis of pharmacogenomics variation during antidepressant treatment.Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.
P2860
Q24307932-DB3E34A7-F33C-4812-953B-3F236E12F718Q26994958-5894D977-0717-47F7-B60F-60EF20C3321EQ34980858-55481B51-EF0C-4F3C-925E-3560C5DA9806Q35765523-6F08C7BB-0C89-453E-A4E7-BBBDB118B9A9Q36706639-A32DAE20-DA80-45AF-96BC-33F0F050FE26Q37138653-320370D7-B225-4088-944B-5929BDFC8396Q37744116-42D0C203-DD4E-427F-A88B-77ECA7D4B40CQ44731605-71380929-F18D-41C3-98C5-9CFCF4C4D0FEQ47912001-1E763F7C-A43E-44F6-9D27-A830A30220C3Q54293080-450FF5C9-DC5A-4096-A471-CCDC1B3F270E
P2860
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Small rare recurrent deletions ...... in-specific ARHGEF4 and GPR148
@ast
Small rare recurrent deletions ...... in-specific ARHGEF4 and GPR148
@en
type
label
Small rare recurrent deletions ...... in-specific ARHGEF4 and GPR148
@ast
Small rare recurrent deletions ...... in-specific ARHGEF4 and GPR148
@en
prefLabel
Small rare recurrent deletions ...... in-specific ARHGEF4 and GPR148
@ast
Small rare recurrent deletions ...... in-specific ARHGEF4 and GPR148
@en
P2093
P2860
P356
P1476
Small rare recurrent deletions ...... in-specific ARHGEF4 and GPR148
@en
P2093
Angus A Wilfong
Ankita Patel
James R Lupski
John A Phillips
Misti Williams
Patricia I Bader
Pawel Stankiewicz
Przemyslaw Szafranski
Richard E Person
Sau Wai Cheung
P2860
P304
P356
10.1093/HMG/DDS166
P577
2012-04-27T00:00:00Z