Pages that link to "Q47903166"
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The following pages link to Human Gene Mutation Database (HGMD): 2003 update (Q47903166):
Displaying 50 items.
- The diploid genome sequence of an individual human (Q21090194) (← links)
- Single nucleotide polymorphism-based validation of exonic splicing enhancers (Q21092824) (← links)
- Genetic variation in an individual human exome (Q21145035) (← links)
- Predicting the effects of frameshifting indels (Q21184005) (← links)
- ProCMD: a database and 3D web resource for protein C mutants (Q21284212) (← links)
- The complete genome of an individual by massively parallel DNA sequencing (Q22122226) (← links)
- Genome sequence of the Brown Norway rat yields insights into mammalian evolution (Q22122498) (← links)
- Aminoglycosides and other nonsense suppression therapies for the treatment of dystrophinopathy (Q24240721) (← links)
- Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship (Q24328801) (← links)
- Comparative analysis of cancer genes in the human and chimpanzee genomes (Q24541311) (← links)
- Ensembl 2014 (Q24567767) (← links)
- Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes (Q24596441) (← links)
- De novo mutations in ATP1A3 cause alternating hemiplegia of childhood (Q24600468) (← links)
- Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis (Q24607347) (← links)
- FINDbase: a worldwide database for genetic variation allele frequencies updated (Q24610176) (← links)
- Large-scale mapping of branchpoints in human pre-mRNA transcripts in vivo (Q24630818) (← links)
- The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website (Q24645514) (← links)
- Recommendations for locus-specific databases and their curation (Q24646762) (← links)
- Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding (Q24647100) (← links)
- Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts (Q24651972) (← links)
- COSMIC 2005 (Q24652464) (← links)
- UCbase & miRfunc: a database of ultraconserved sequences and microRNA function (Q24656355) (← links)
- Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans (Q24658225) (← links)
- The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms (Q24673451) (← links)
- A microarray configuration to quantify expression levels and relative abundance of splice variants (Q24797945) (← links)
- Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes (Q24805194) (← links)
- Tandem repeat copy-number variation in protein-coding regions of human genes (Q24811291) (← links)
- Speeding disease gene discovery by sequence based candidate prioritization (Q24811442) (← links)
- nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms (Q24812204) (← links)
- RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database (Q24813953) (← links)
- Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods (Q25255759) (← links)
- Djinn Lite: a tool for customised gene transcript modelling, annotation-data enrichment and exploration (Q25257507) (← links)
- Human Knockout Carriers: Dead, Diseased, Healthy, or Improved? (Q26764736) (← links)
- Disease gene identification strategies for exome sequencing (Q26866283) (← links)
- A review of post-GWAS prioritization approaches (Q26995408) (← links)
- Structure of the Parkin in-between-ring domain provides insights for E3-ligase dysfunction in autosomal recessive Parkinson's disease (Q27644069) (← links)
- Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC (Q28244344) (← links)
- c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma (Q28245794) (← links)
- An automated procedure to identify biomedical articles that contain cancer-associated gene variants (Q28253911) (← links)
- Molecular approaches in the diagnosis of primary immunodeficiency diseases (Q28262616) (← links)
- Ensembl 2013 (Q28280494) (← links)
- Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders (Q28282010) (← links)
- ORegAnno: an open access database and curation system for literature-derived promoters, transcription factor binding sites and regulatory variation (Q28290181) (← links)
- Mutational analysis of aspartoacylase: implications for Canavan disease (Q28295349) (← links)
- Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency (Q28300499) (← links)
- Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70 (Q28472376) (← links)
- Disease-associated mutations that alter the RNA structural ensemble (Q28475210) (← links)
- In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization (Q28542527) (← links)
- Ensembl 2016 (Q28603093) (← links)
- Multiple conformations are a conserved and regulatory feature of the RB1 5' UTR (Q28648008) (← links)