Search Result "missense variant."


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

Research Article

A COL4A5 Missense Variant in a Han-Chinese Family with X-linked Alport Syndrome

Journal: Current Molecular Medicine
Volume: 19 Issue: 10 Year: 2019 Page: 758-765
Author(s): Yuan Wu,Yi Guo,Jinzhong Yuan,Hongbo Xu,Yong Chen,Hao Zhang,Mingyang Yuan,Hao Deng,Lamei Yuan

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

Amino Acid Pairs Susceptible to Variants in Human Protein C Precursor

Journal: Protein & Peptide Letters
Volume: 12 Issue: 5 Year: 2005 Page: 491-494
Author(s): Guang Wu, Shaomin Yan

In Silico Identification and Analysis of Drug Resistant Mutants of ABL Tyrosine Kinase Based on Detrimental Missense Mutations

Journal: Current Signal Transduction Therapy
Volume: 6 Issue: 3 Year: 2011 Page: 396-404
Author(s): R. Rajasekaran, C. George Priya Doss, G. Arun Prasad, Rao Sethumadhavan

Computational Approaches for Predicting Causal Missense Mutations in Cancer Genome Projects

Journal: Current Bioinformatics
Volume: 3 Issue: 1 Year: 2008 Page: 46-55
Author(s): Zemin Zhang, Lawrence S. Hon, Joshua S. Kaminker

Research Article

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

Disease Risk of Missense Mutations Using Structural Inference from Predicted Function

Journal: Current Protein & Peptide Science
Volume: 11 Issue: 7 Year: 2010 Page: 573-588
Author(s): Jeremy A. Horst, Kai Wang, Orapin V. Horst, Michael L. Cunningham, Ram Samudrala

Research Article

Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)

Journal: Current Genomics
Volume: 18 Issue: 1 Year: 2017 Page: 93-103
Author(s): Daniela Alosi,Marie Luise Bisgaard,Sophie Nowak Hemmingsen,Lotte Nylandsted Krogh,Hanne Birte Mikkelsen,Marie Louise Molgaard Binderup

BRCA Unclassified Variants: How Can They be Classified?

Journal: Current Women`s Health Reviews
Volume: 8 Issue: 1 Year: 2012 Page: 30-37
Author(s): Stefania Tommasi, Simona De Summa, Brunella Pilato, Angelo Paradiso

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