WebPHEXdb provides a submission form to allow the addition of newly identified mutations in the PHEX gene. Users can search the database by mutation, phenotype, and authors who … WebPHEXdb allows online access where users can search the database by mutation, which includes name and type of mutation, and codon name; by phenotype, which includes …
PHex version history - Heat Exchangers Software
WebThe PHEX gene codes for a membrane-bound endoprotease (Zn-metaloendopeptidase proteolytic enzyme) which is predominantly expressed in osteoblasts that regulates phosphates. PHEX regulates the function of fibroblast growth factor 23 (FGF-23) – the most important factor in the pathophysiology of hyperphosphaturic disturbances. WebNov 9, 2024 · PHEX-AS1 (PHEX Antisense RNA 1) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with PHEX-AS1 include Hypophosphatemic Rickets, X-Linked Dominant and Hypophosphatemic Rickets, X-Linked Recessive . Additional gene information for PHEX-AS1 Gene HGNC (40445) NCBI Entrez Gene (100873942) Ensembl … chegg support contact information
PHEXdb, a locus-specific database for mutations causing …
WebJun 24, 2015 · Direct Sanger sequencing of the PHEX gene Primers for PCR amplification of all 22 coding exons and exon/intron boundaries of the PHEX gene (NM_000444.4) were designed using the web-based Primer3 ( http://biotools.umassmed.edu/bioapps/primer3_www.cgi) software. The sequences are … WebDec 27, 2024 · We herein describe a possible clinical implication for the missense "de novo" mutation, c.250G>C (p.Ala84Pro) in the PHEX gene, reported in the PHEX database and classified as a variant of uncertain significance (VUS). The clinical implication of this mutation on disease burden and quality of life in adults is still under investigation. WebNov 20, 2024 · 1. Open PKHeX (it will automatically load your current “main” if the directory is present) and drag the “main” file to the open window. 2. Here you will see this familiar window: On the very first tab, you will see a variety of options. To start, you obviously have to have a Pokémon in mind. chegg support live chat