MutationTaster2: mutation prediction for the deep-sequencing age.
about
The Divergence of Neandertal and Modern Human Y ChromosomesMutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopmentA missense mutation in KCTD17 causes autosomal dominant myoclonus-dystoniaCurrent strategies for mutation detection in phenotype-driven screens utilising next generation sequencingPhenotype-driven strategies for exome prioritization of human Mendelian disease genes.GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsyHomozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystoniaA mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation.Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohortClinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary NeuropathyAnalysis of genetic variation and potential applications in genome-scale metabolic modelingMutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organizationHeterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with AnemiaArginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATMGain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophyA novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestineHaploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac AnomaliesPOLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillanceA panoply of errors: polymerase proofreading domain mutations in cancerPON-P2: prediction method for fast and reliable identification of harmful variantsα1-Syntrophin Variant Identified in Drug-Induced Long QT Syndrome Increases Late Sodium CurrentMutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertensionBiallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa SyndromeMonoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin FragilityNonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the diseaseMECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderIGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty.CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.Patient Mutation Directed shRNA Screen Uncovers Novel Bladder Tumor Growth Suppressors.Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss.Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing.How to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies?A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.
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MutationTaster2: mutation prediction for the deep-sequencing age.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh-hant
name
MutationTaster2: mutation prediction for the deep-sequencing age.
@en
MutationTaster2: mutation prediction for the deep-sequencing age.
@nl
type
label
MutationTaster2: mutation prediction for the deep-sequencing age.
@en
MutationTaster2: mutation prediction for the deep-sequencing age.
@nl
prefLabel
MutationTaster2: mutation prediction for the deep-sequencing age.
@en
MutationTaster2: mutation prediction for the deep-sequencing age.
@nl
P356
P1433
P1476
MutationTaster2: mutation prediction for the deep-sequencing age.
@en
P2093
Jana Marie Schwarz
Markus Schuelke
P2888
P304
P356
10.1038/NMETH.2890
P577
2014-04-01T00:00:00Z