WebGDB -- the Human Genome DataBase Search the encyclopedia of the human genome that is being constantly revised and updated to reflect the current state of scientific … WebGene Names: Gene Aliases: RefSeq Accessions: SNP IDs (if applicable): Mature Names (if applicable): Hs00597312_CE details, Hs00597312_CE search: Human ... Species Human Location. Chr.14: 88185709-88185968 on GRCh38; Amp. Len. 260 Transcripts. 4 RefSeqs (NM) Availability. Made to Order.

Daniel Bednarik, Ph.D. - LinkedIn

WebFeatures the Human Gene Mutation Database, presented by the Institute of Medical Genetics within the College of Medicine of the University of Wales. Allows users to search the database. Notes that the database comprises various types of mutation within the coding regions of human nuclear genes causing inherited disease. WebThe professional version of the Human Gene Mutation Database (HGMD) provides up-to-date information on human inherited gene mutations. It allows researchers to assess the novelty of identified gene mutations. The mutations in the database are manually curated from the scientific literature. bd gupta behror

The Human Lysosome Gene Database - hLGDB

WebConsequently, using Sanger sequencing of X chromosome exomes, we identified a novel duplication mutation (c.405dup/p.Asp136X) in the EMD gene as the cause for the disease in this family. This variant is a novel mutation that has not been previously reported in Pubmed, Clinvar or other cases reported in the Human Gene Mutation Database. Web11 Apr 2024 · Methods: RNA-seq data on human adipose tissue were retrieved from the Gene Expression Omnibus database. The differentially expressed genes of metabolism-related proteins (MP-DEGs) were screened using protein annotation databases. Biological function and pathway annotations of the MP-DEGs were performed through Gene … bd gupta pdf