Japanese pathogenic variant database: DPV
نویسندگان
چکیده
منابع مشابه
Database Protein sequence database for pathogenic arenaviruses Huynh
Background: Arenaviruses are a family of rodent-borne viruses that cause several hemorrhagic fevers. These diseases can be devastating and are often lethal. Herein, to aid in the design and development of diagnostics, treatments and vaccines for arenavirus infections, we have developed a database containing protein sequences from the seven pathogenic arenaviruses (Junin, Guanarito, Sabia, Machu...
متن کاملGenetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database.
OBJECTIVE To determine prevalence, genetic and phenotype characteristics of patients with hepatocyte nuclear factor-1α (HNF1A) variants in the Diabetes Patienten Verlaufsdokumenation (DPV) multicentre database and to examine the influence of HNF1A mutation type, or location on clinical phenotypes. PATIENTS AND METHODS Seventy-one DPV patients were labelled as HNF1A-MODY (MODY3). Forty-four pa...
متن کاملProtein sequence database for pathogenic arenaviruses
BACKGROUND Arenaviruses are a family of rodent-borne viruses that cause several hemorrhagic fevers. These diseases can be devastating and are often lethal. Herein, to aid in the design and development of diagnostics, treatments and vaccines for arenavirus infections, we have developed a database containing protein sequences from the seven pathogenic arenaviruses (Junin, Guanarito, Sabia, Machup...
متن کاملMicroduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...
متن کاملLenVarDB: database of length-variant protein domains
Protein domains are functionally and structurally independent modules, which add to the functional variety of proteins. This array of functional diversity has been enabled by evolutionary changes, such as amino acid substitutions or insertions or deletions, occurring in these protein domains. Length variations (indels) can introduce changes at structural, functional and interaction levels. LenV...
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ژورنال
عنوان ژورنال: Translational Science of Rare Diseases
سال: 2018
ISSN: 2214-6490,2214-6512
DOI: 10.3233/trd-180027