Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Item
http://www.wikidata.org/entity/Q35538234
Testing the role of predicted gene knockouts in human anthropometric trait variationTowards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense VariantsSystematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancerThe use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes.Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.Systematic Cell-Based Phenotyping of Missense Alleles.Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.Correction: systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.Bioinformatic Analysis of the Possible Regulative Network of miR-30a/e in Cardiomyocytes 2 Days Post Myocardial Infarction.Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.Systematic RNA-interference in primary human monocyte-derived macrophages: A high-throughput platform to study foam cell formation.Deep-coverage whole genome sequences and blood lipids among 16,324 individuals
P2860

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Item
http://www.wikidata.org/entity/Q35538234
description
2015 nî lūn-bûn
@nan
2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Systematic cell-based phenotyp ...... DLR and myocardial infarction.
@ast
Systematic cell-based phenotyp ...... DLR and myocardial infarction.
@en
type
label
Systematic cell-based phenotyp ...... DLR and myocardial infarction.
@ast
Systematic cell-based phenotyp ...... DLR and myocardial infarction.
@en
altLabel
Systematic cell-based phenotyp ...... LDLR and myocardial infarction
@en
prefLabel
Systematic cell-based phenotyp ...... DLR and myocardial infarction.
@ast
Systematic cell-based phenotyp ...... DLR and myocardial infarction.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
Systematic cell-based phenotyp ...... DLR and myocardial infarction.
@en
P2093
P2860
P304
P31
P356
10.1371/JOURNAL.PGEN.1004855
P407
P433
P478
P50
P577
P5875
P698
P921
P932