Pages that link to "Q29616531"

The following pages link to Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion (Q29616531):

Displaying 50 items.

• Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome (Q21261499) (← links)
• Analysis of four DLX homeobox genes in autistic probands (Q21283791) (← links)
• A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form (Q21284326) (← links)
• Challenges in the association of human single nucleotide polymorphism mentions with unique database identifiers (Q21284327) (← links)
• The value of data (Q22676713) (← links)
• Periaxin mutations cause recessive Dejerine-Sottas neuropathy (Q24290670) (← links)
• Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness (Q24290692) (← links)
• A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels (Q24294801) (← links)
• A functional SNP in PSMA6 confers risk of myocardial infarction in the Japanese population (Q24297364) (← links)
• Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13) (Q24299351) (← links)
• Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II (Q24300206) (← links)
• Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation (Q24300800) (← links)
• Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture (Q24301645) (← links)
• Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy (Q24304241) (← links)
• Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome (Q24306589) (← links)
• Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human (Q24307681) (← links)
• Mutations in the N-terminal domains of nectin-1 and nectin-2 reveal differences in requirements for entry of various alphaherpesviruses and for nectin-nectin interactions. (Q24319105) (← links)
• KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients (Q24324107) (← links)
• Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction (Q24338354) (← links)
• De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy (Q24533495) (← links)
• The molecular basis of X-linked spondyloepiphyseal dysplasia tarda (Q24533523) (← links)
• Haplotype and functional analysis of four flavin-containing monooxygenase isoform 2 (FMO2) polymorphisms in Hispanics (Q24539077) (← links)
• DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation (Q24567711) (← links)
• Data mining using the Catalogue of Somatic Mutations in Cancer BioMart (Q24604621) (← links)
• Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease (Q24604845) (← links)
• Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia (Q24610890) (← links)
• The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1 (Q24616654) (← links)
• Genetic interstitial lung disease (Q24626239) (← links)
• COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer (Q24644945) (← links)
• The Catalogue of Somatic Mutations in Cancer (COSMIC) (Q24653244) (← links)
• Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy (Q24672705) (← links)
• DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency (Q24677959) (← links)
• Standard mutation nomenclature in molecular diagnostics: practical and educational challenges (Q24685947) (← links)
• Association of genetic polymorphisms in CYP2E1, MPO, NQO1, GSTM1, and GSTT1 genes with benzene poisoning. (Q24811463) (← links)
• RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database (Q24813953) (← links)
• The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency (Q25255676) (← links)
• Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma (Q25255910) (← links)
• Pathophysiology of hypophosphatasia and the potential role of asfotase alfa (Q26747780) (← links)
• The clinical and genetic heterogeneity of paroxysmal dyskinesias (Q26776399) (← links)
• Next-Generation Sequencing in Clinical Molecular Diagnostics of Cancer: Advantages and Challenges (Q26782324) (← links)
• Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database (Q26824085) (← links)
• The biophysical and biochemical properties of the autoimmune regulator (AIRE) protein (Q26849798) (← links)
• IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database (Q27022796) (← links)
• Association of TLR7 variants with AIDS-like disease and AIDS vaccine efficacy in rhesus macaques (Q27318249) (← links)
• Near-fatal multiple organ dysfunction syndrome induced by Plasmodium malariae (Q27488427) (← links)
• High-performance web services for querying gene and variant annotation (Q27943213) (← links)
• Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism (Q28085033) (← links)
• Mutations and polymorphisms in the human methyl CpG-binding protein MECP2 (Q28188406) (← links)
• A nine-nucleotide deletion and splice variation in the coding region of the interferon induced ISG12 gene (Q28189146) (← links)
• The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis (Q28190263) (← links)