dbSNP: the NCBI database of genetic variation - Wikidata - awgldk - TriplyDB

dbSNP: the NCBI database of genetic variation

dbSNP: the NCBI database of genetic variation

http://www.wikidata.org/entity/Q24608672

about

Ensembl variation resources Comparative genomics search for losses of long-established genes on the human lineage Single nucleotide polymorphism-based validation of exonic splicing enhancers Nuclear and mitochondrial tRNA-lookalikes in the human genome Circ2Traits: a comprehensive database for circular RNA potentially associated with disease and traits Systematic pharmacogenomics analysis of a Malay whole genome: proof of concept for personalized medicine Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F Bioinformatic and genetic association analysis of microRNA target sites in one-carbon metabolism genes Extreme evolutionary disparities seen in positive selection across seven complex diseases U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line Genetic variation in an individual human exome No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome Isolated populations and complex disease gene identification Evolution of an adenocarcinoma in response to selection by targeted kinase inhibitors Fetal ERAP2 variation is associated with preeclampsia in African Americans in a case-control study Challenges in the association of human single nucleotide polymorphism mentions with unique database identifiers Analyzing effects of naturally occurring missense mutations Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma Tumor transcriptome sequencing reveals allelic expression imbalances associated with copy number alterations The diploid genome sequence of an Asian individual Ensembl 2008 Sequencing pools of individuals — mining genome-wide polymorphism data without big funding Database resources of the National Center for Biotechnology Information Improved exome prioritization of disease genes through cross-species phenotype comparison Genetic susceptibility to occupational exposures Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression Molecular analysis of a mutated FSH receptor detected in a patient with spontaneous ovarian hyperstimulation syndrome Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function The UCSC Genome Browser Database: update 2006 OMIA (Online Mendelian Inheritance in Animals): an enhanced platform and integration into the Entrez search interface at NCBI Genotyping pooled DNA using 100K SNP microarrays: a step towards genomewide association scans.HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources FESD: a Functional Element SNPs Database in human

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dbSNP: the NCBI database of genetic variation

http://www.wikidata.org/entity/Q24608672

description

2001 nî lūn-bûn

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2001 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2001 թվականի հունվարին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年论文

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dbSNP: the NCBI database of genetic variation

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dbSNP: the NCBI database of genetic variation

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dbSNP: the NCBI database of genetic variation

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dbSNP: the NCBI database of genetic variation

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Nucleic Acids Research

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dbSNP: the NCBI database of genetic variation

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E M Smigielski

http://www.w3.org/2001/XMLSchema#string

J Baker

http://www.w3.org/2001/XMLSchema#string

K Sirotkin

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L Phan

http://www.w3.org/2001/XMLSchema#string

M H Ward

http://www.w3.org/2001/XMLSchema#string

M Kholodov

http://www.w3.org/2001/XMLSchema#string

S T Sherry

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HGBASE: a database of SNPs and other variations in and around human genes

Reliable identification of large numbers of candidate SNPs from public EST data.

The DNA revolution in population genetics.

Shattuck lecture--medical and societal consequences of the Human Genome Project.

High throughput analysis of differential gene expression.

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308-11

http://www.w3.org/2001/XMLSchema#string

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scholarly article

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154753

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10.1093/NAR/29.1.308

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