Pages that link to "Q27860835"

The following pages link to A method and server for predicting damaging missense mutations (Q27860835):

Displaying 50 items.

• The spectrum of SWI/SNF mutations, ubiquitous in human cancers (Q21090801) (← links)
• A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant (Q21090962) (← links)
• A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery (Q21092417) (← links)
• RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort (Q21131998) (← links)
• A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs (Q21132281) (← links)
• Systematic pharmacogenomics analysis of a Malay whole genome: proof of concept for personalized medicine (Q21132550) (← links)
• Non-synonymous polymorphisms in the FCN1 gene determine ligand-binding ability and serum levels of M-ficolin (Q21133812) (← links)
• Data integration workflow for search of disease driving genes and genetic variants (Q21135492) (← links)
• FAM20A mutations can cause enamel-renal syndrome (ERS). (Q21144895) (← links)
• Phased whole-genome genetic risk in a family quartet using a major allele reference sequence (Q21144940) (← links)
• No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (Q21146647) (← links)
• Predicting the effects of frameshifting indels (Q21184005) (← links)
• X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation (Q21202844) (← links)
• A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever (Q21261477) (← links)
• Comparative genomics of closely related Salmonella enterica serovar Typhi strains reveals genome dynamics and the acquisition of novel pathogenic elements (Q21266657) (← links)
• The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild (Q21266671) (← links)
• Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family (Q21266678) (← links)
• Analyzing effects of naturally occurring missense mutations (Q21284966) (← links)
• The common marmoset genome provides insight into primate biology and evolution (Q21972855) (← links)
• Genomic legacy of the African cheetah, Acinonyx jubatus (Q22000590) (← links)
• From mouse to human: evolutionary genomics analysis of human orthologs of essential genes (Q22065247) (← links)
• Recombination affects accumulation of damaging and disease-associated mutations in human populations (Q22122064) (← links)
• Minke whale genome and aquatic adaptation in cetaceans (Q22122070) (← links)
• The tiger genome and comparative analysis with lion and snow leopard genomes (Q22122097) (← links)
• Crohn's disease risk alleles on the NOD2 locus have been maintained by natural selection on standing variation (Q22242851) (← links)
• TREM2 Variants in Alzheimer's Disease (Q22250873) (← links)
• Genetic studies of body mass index yield new insights for obesity biology (Q22305005) (← links)
• Improved exome prioritization of disease genes through cross-species phenotype comparison (Q23815226) (← links)
• Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations (Q24292940) (← links)
• Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair (Q24293034) (← links)
• Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants (Q24293661) (← links)
• Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems (Q24294551) (← links)
• Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function (Q24295194) (← links)
• CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration (Q24295268) (← links)
• Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism (Q24297470) (← links)
• SERPINA2 is a novel gene with a divergent function from SERPINA1 (Q24297491) (← links)
• TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy (Q24299150) (← links)
• Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28 (Q24299499) (← links)
• Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. (Q24299865) (← links)
• The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation (Q24300345) (← links)
• A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability (Q24300577) (← links)
• Novel missense MTTP gene mutations causing abetalipoproteinemia (Q24301849) (← links)
• PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans (Q24301980) (← links)
• JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia (Q24302095) (← links)
• Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies (Q24302484) (← links)
• Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies (Q24303523) (← links)
• Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease (Q24303795) (← links)
• Functional characterization of naturally occurring genetic variants in the human TLR1-2-6 gene family (Q24304480) (← links)
• Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa (Q24306552) (← links)
• Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms (Q24306561) (← links)