Search Result "functional variants"


MDM4 (MDMX) and its Transcript Variants

Journal: Current Genomics
Volume: 10 Issue: 1 Year: 2009 Page: 42-50
Author(s): F. Mancini, G. Di Conza, F. Moretti

General Research Article

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

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

GCPII Variants, Paralogs and Orthologs

Journal: Current Medicinal Chemistry
Volume: 19 Issue: 9 Year: 2012 Page: 1316-1322
Author(s): K. Hlouchova, V. Navratil, J. Tykvart, P. Sacha, J. Konvalinka

Genetic Variants of α 1-Antitrypsin

Journal: Current Protein & Peptide Science
Volume: 11 Issue: 2 Year: 2010 Page: 101-117
Author(s): Parveen Salahuddin

A Synthesis of Functional Neuroimaging in the Frontal Variant of Frontotemporal Dementia

Journal: Current Medical Imaging Reviews
Volume: 3 Issue: 2 Year: 2007 Page: 117-121
Author(s): Eric Salmon, Gaetan Garraux, Fabienne Collette

Alternative Splice Variants of Survivin as Potential Targets in Cancer

Journal: Current Drug Discovery Technologies
Volume: 4 Issue: 3 Year: 2007 Page: 174-191
Author(s): Janardhan Sampath, Louis M. Pelus, Janardhan Sampath, Louis M. Pelus

Functional Variants of the Interleukin-23 Receptor Gene in Non-Gastrointestinal Autoimmune Diseases

Journal: Current Medicinal Chemistry
Volume: 16 Issue: 2 Year: 2009 Page: 3766-3774
Author(s): E. Safrany, B. Melegh

Research Article

Identification of Functional Variants Associated with Obesity in Pakistani Kindred

Journal: Current Chinese Science
Volume: 1 Issue: 1 Year: 2021 Page: 58-68
Author(s): Ayesha Aftab,Syed Babar Jamal,Syeda Marriam Bakhtiar

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

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