Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.

Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.

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http://www.wikidata.org/entity/Q38185270
Altered CSMD1 Expression Alters Cocaine-Conditioned Place Preference: Mutual Support for a Complex Locus from Human and Mouse ModelsFunctional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish.Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataractRemotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHDIntegrated small copy number variations and epigenome maps of disorders of sex development.MotifHyades: Expectation Maximization for de novo DNA Motif Pair Discovery on Paired Sequences.A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal DiagnosisUsing Zebrafish to Test the Genetic Basis of Human Craniofacial Diseases.Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX genePairs of Adjacent Conserved Noncoding Elements Separated by Conserved Genomic Distances Act as Cis-Regulatory Units
P2860

Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.

Item
http://www.wikidata.org/entity/Q38185270
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
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artículo científico
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name
Disruption of long-range gene ...... nique phenotypic consequences.
@en
type
label
Disruption of long-range gene ...... nique phenotypic consequences.
@en
prefLabel
Disruption of long-range gene ...... nique phenotypic consequences.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P6179
P698
P356
P1433
P1476
Disruption of long-range gene ...... nique phenotypic consequences.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P6179
P698