Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
about
The impact of rare and low-frequency genetic variants in common diseaseWhen "N of 2" is not enough: integrating statistical and functional data in gene discovery.The Mouse Lemur, a Genetic Model Organism for Primate Biology, Behavior, and Health.Non-Coding Loss-of-Function Variation in Human Genomes.Estimating the selective effects of heterozygous protein-truncating variants from human exome data.From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health.Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.In Vivo Base Editing of PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) as a Therapeutic Alternative to Genome Editing.Genome Editing: The Recent History and Perspective in Cardiovascular Diseases.Human gene essentiality.Apolipoprotein C-III inhibits triglyceride hydrolysis by GPIHBP1-bound LPL.Human genetics of infectious diseases: Unique insights into immunological redundancy.Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies.A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.Runs of homozygosity: windows into population history and trait architecture.CRISPR-Cas9 Genome Editing for Treatment of Atherogenic Dyslipidemia.Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.Estimating the mutational load for cardiovascular diseases in Pakistani population.Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.Settling the score: variant prioritization and Mendelian disease.Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS.Big data from electronic health records for early and late translational cardiovascular research: challenges and potential.Genetic-Driven Druggable Target Identification and ValidationA homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous diseaseOrigin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populationsUnderstanding the Hidden Complexity of Latin American Population IsolatesFrequency and phenotype consequence of APOC3 rare variants in patients with very low triglyceride levelsHuman genes lost and their functions found
P2860
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P2860
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
@en
type
label
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
@en
altLabel
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
@en
prefLabel
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
@en
P2093
P2860
P50
P356
P1433
P1476
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
@en
P2093
Anis Memon
Asif Rasheed
Atif Imran
Benjamin Weisburd
Daniel G MacArthur
Daniel J Rader
Faisal Majeed
Fazal-Ur-Rehman Memon
John Danesh
Kevin Trindade
P2860
P2888
P304
P356
10.1038/NATURE22034
P407
P50
P577
2017-04-01T00:00:00Z