web based anutation programme-turkish population variant database (Genomize Inc)
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Web Based Anutation Programme Turkish Population Variant Database, supplied by Genomize Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/database+programmer/web+based+anutation+programme+turkish+population+variant+database/pm39705914-91-15-10
Average 90 stars, based on 1 article reviews
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Mutagenesis:Article Title: Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review. Article Snippet: Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S) typically present before age 10.. Genetic factors account for up to 50 % of neuropathies, which often display varied symptoms.. Mutations in the IGHMBP2 gene are associated with both CMT2S and SMARD1, resulting in a rare clinical condition marked by axonal neuropathy, spinal muscular atrophy, respiratory distress, and muscle weakness. Variant Assay:Article Title: Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review. Article Snippet: Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S) typically present before age 10.. Genetic factors account for up to 50 % of neuropathies, which often display varied symptoms.. Mutations in the IGHMBP2 gene are associated with both CMT2S and SMARD1, resulting in a rare clinical condition marked by axonal neuropathy, spinal muscular atrophy, respiratory distress, and muscle weakness. |
