Overview
A deletion mutation is a genetic alteration in which one or more nucleotides are removed from a DNA sequence, potentially disrupting gene function and protein synthesis. Research published in this journal examines deletion mutations across diverse clinical and molecular contexts. Studies have investigated deletion variants in metabolic disorders, including molecular analysis of gene alterations in phenylketonuria patients, and characterized specific deletion mutations in cancer-related genes such as RET in medullary thyroid carcinoma, where a four-nucleotide deletion variant demonstrated clinical response to targeted therapy. Additional work has explored somatic mutations in interferon signaling molecules in uterine leiomyosarcoma and examined variants of uncertain clinical significance in BRCA1, addressing the challenge of interpreting deletion effects on protein structure and function. Comparative genomic analyses have also traced deletion patterns in viral spike protein-coding genes across coronavirus
Research published in this journal
8 peer-reviewed articles, ranked by relevance. Each links to its DOI.
RET 898-901Del mutant, a variant of unknown significance, has a durable response to Pralsetinib in a Medullary Thyroid Carcinoma patient
Functional, Structural and Contextual Analysis of a Variant of Uncertain Clinical Significance in BRCA1: c.5434C->G (p. Pro1812Ala)
The Identification of Somatic Mutations in Interferon-G Signal Molecules in Human Uterine Leiomyosarcoma
Yeast Species Mediated Bioprocesses and Bio-Products for Biotechnological Application
Molecular Evolutionary Characteristics of the 2019 Novel Coronavirus (SARS-CoV-2) Contracted by Tunisian Citizens : Comparison and Relationship to Other Human and Animal Coronaviruses Based on Spike Glycoprotein-Coding Gene Sequences Analysis
Targeting Cell Metabolism in Chronic Lymphocytic Leukaemia (CLL); Aviable Therapeutic Approach?
Tumor Development in p53 Knockout Mice: A Review of Mice Deficient for p53
How this research is being cited
The 8 articles above have been cited 13 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.
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2024 · Fermentation
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2024 · Current Issues in Molecular Biology
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2024 · Fermentation
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2023 · CPT Pharmacometrics & Systems Pharmacology
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2023 · CPT: Pharmacometrics & Systems Pharmacology
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Matheus Mikio Takeyama et al. · 2020 · Research, Society and Development
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Microbial Stereo Inversion of (R) 3 Chloro-1,2-Propandiol by Wickerhamomyces anomalous MGR6-KY2099032020 · Biointerface Research in Applied Chemistry
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2020 · Scientific Reports
A sample of recent works citing this journal's research on Deletion Mutation, linking to each citing work.