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. WebPHEX: Gene name: phosphate regulating endopeptidase homolog, X-linked: Chromosome: X: Chromosomal band: p22.2-p22.1: Imprinted: Unknown: Genomic reference: NG_007563.2: …
PHEX Locus Specific Database - Labs - NIH Genetic …
WebFeb 14, 2024 · Since a PHEX gene mutation was first identified in 1995, at least 364 mutations, including nonsense mutations, have been registered in the Human Gene … WebJul 24, 2024 · PHex – v7.0.0.0. + Added a feature to allow the user to select from a list of 12 Nusselt number correlations. + Add your own Nusselt number correlation in two different formats through a correlations database and use them during software calculations. + Added the ability to define Nusselt number. lawyer in florenceville nb
(PDF) Pathogenic Variants of the PHEX Gene - ResearchGate
WebThe PHEX enzyme could be involved in regulating the balance of phosphate in the body. Among its many functions, phosphate plays a critical role in the formation and growth of … WebOct 17, 2024 · Database and infrastructure improvements that address the increasing size and complexity of gnomAD; Sample QC. The overall sample QC process is similar to the 2.0.2 pipeline. The most profound difference is a much refined sequencing platform assignment process, especially for the exomes for which we developed a data-driven … WebPHEX database PHEX database PHEX locus-specific database for PHEX gene mutation PHEX gene variant X-Linked Hypophosphatemia gene XLH gene PHEX LSDB PHEXDB new … lawyer in flight movie