Search Result "Novel Pathogenic Variant"
Case Report: Novel Pathogenic Variant Detected in Two Siblings withType 1 Gaucher Disease
Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 23 Issue: 14 Year: 2023 Page: 1780-1783
Author(s):
Analysis of Novel Variants Associated with Three Human Ovarian CancerCell Lines
Journal: Current Bioinformatics
Volume: 17 Issue: 4 Year: 2022 Page: 380-392
Author(s): Venugopala Reddy Mekala
Identification of Two Novel Pathogenic Variants of the ATM Gene inthe Iranian-Azeri Turkish Ethnic Group by Applying Whole ExomeSequencing
Journal: Current Genomics
Volume: 24 Issue: 6 Year: 2023 Page: 345-353
Author(s):
An Update of In Silico Tools for the Prediction of Pathogenesis in Missense Variants
Journal: Current Bioinformatics
Volume: 6 Issue: 2 Year: 2011 Page: 185-198
Author(s): Alejandro j. Brea-Fernandez, Marta Ferro, Ceres Fernandez-Rozadilla, Ana Blanco, Laura Fachal, Marta Santamarina, Ana Vega, Alejandro Pazos, Angel Carracedo, Clara Ruiz-Ponte
Novel Somatic Mutations of the CDH1 Gene Associated with Gastric Cancer: Prediction of Pathogenicity Using Comprehensive In silico Methods
Journal: Current Pharmacogenomics and Personalized Medicine
Volume: 17 Issue: 3 Year: 2020 Page: 182-196
Author(s): Payel Chakraborty,Souvik Ghatak,Ravi Prakash Yadav,Subhajit Mukherjee,Lalchhandama Chhakchhuak,Saia Chenkual,Thomas Zomuana,Sailo Tlau Lalruatfela,Arindam Maitra,Nachimuthu Senthil Kumar
Identification of Novel and Known LDLR Variants Triggering SevereFamilial Hypercholesterolemia in Saudi Families
Journal: Current Vascular Pharmacology
Volume: 20 Issue: 4 Year: 2022 Page: 361-369
Author(s): Faisal A. Al-Allaf,Wafa M Elbjeirami,Abdulhalim J Kinsara,Mohiuddin M. Taher
Novel Antibiotic Compounds Produced by the Insect Pathogenic Bacterium Photorhabdus
Journal: Recent Patents on Anti-Infective Drug Discovery
Volume: 4 Issue: 2 Year: 2009 Page: 81-89
Author(s): Ioannis G. Eleftherianos
Novel Strategies for Combating Pathogenic Biofilms Using Plant Products and Microbial Antibiosis
Journal: Current Pharmaceutical Biotechnology
Volume: 17 Issue: 2 Year: 2016 Page: 126-140
Author(s): Mohd S.A. Khan,Jintae Lee
Identification of a Novel TSC2 c.170G>A Missense Variant: A Case Reportand Elaboration on the Yield of Targeted Options against TuberousSclerosis Complex Manifestations
Journal: Reviews on Recent Clinical Trials
Volume: 18 Issue: 4 Year: 2023 Page: 304-312
Author(s):
The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT>GC Variants Differ Markedly from Those Predicted
Journal: Current Genomics
Volume: 21 Issue: 1 Year: 2020 Page: 56-66
Author(s): Jian-Min Chen,Jin-Huan Lin,Emmanuelle Masson,Zhuan Liao,Claude Férec,David N. Cooper,Matthew Hayden