Search Result "pathogenic variants"


Review Article

The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity

Journal: Current Protein & Peptide Science
Volume: 18 Issue: 7 Year: 2017 Page: 702-714
Author(s): David N. Hauser,Christopher T. Primiani,Mark R. Cookson

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

Case Report

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):

Review Article

Different Variants of SARS-CoV-2: A Comprehensive Review on MutationPatterns and Pathogenicity

Journal: Coronaviruses
Volume: 4 Issue: 1 Year: 2023 Page: 22-32
Author(s): Mohsin Ali Khan,Waseem Ahmad Ansari,Mohd. Aamish Khan,Mohammad Faheem Khan

Research Article

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):

Research Article

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

Durability of Plant Resistance to Pathogens and Pests

Ebook: An Introduction to Plant Immunity
Volume: 1 Year: 2021
Author(s): Yosra Habachi,Dhia Bouktila
Doi: 10.2174/9781681088020121010025

Research Article

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

New Integrated Mitochondrial DNA Bioinformatics Pipeline to Improve Quality Assessment of Putative Pathogenic Variants from NGS Experiments

Ebook: Tuberculosis: A Clinical Practice Guide
Volume: 1 Year: 2020
Author(s): Luigi Donato,Simona Alibrandi,Rosalia D’Angelo,Concetta Scimone,Antonina Sidoti,Alessandra Costa
Doi: 10.2174/97898114818021200101

Book of Abstract

Diversities in Leigh Syndrome Associated with MT-ATP6 Gene Variants

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 24 Issue: 16 Year: 2024 Page: 10-10
Author(s):

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