Search Result "2T>C variant."


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

Research Article

Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa

Journal: Current Molecular Medicine
Volume: 18 Issue: 5 Year: 2018 Page: 287-294
Author(s): Z. Wu,M. Zhong,M. Li,H. Huang,J. Liao,A. Lu,K. Guo,N. Ma,J. Lin,J. Duan,L. Liu,F. Xu,Z. Zhong,J. Chen

Sequence Variants of the Ligand-Binding Domain of the Glucocorticoid Receptor Gene and their Functional Consequences on the Three- Dimensional Protein Structure

Journal: Current Medicinal Chemistry
Volume: 11 Issue: 2 Year: 2004 Page: 3229-3237
Author(s): Istvan Liko, Peter Igaz, Attila Patocs, Szilvia Toth, Tamas Pazmany, Miklos Toth, Karoly Racz

The Pharmacogenetics of CYP2C9 and CYP2C19: Ethnic Variation and Clinical Significance

Journal: Current Clinical Pharmacology
Volume: 2 Issue: 1 Year: 2007 Page: 93-109
Author(s): J. Rosemary, C. Adithan

CD45 Regulated Signaling Pathways

Journal: Current Topics in Medicinal Chemistry
Volume: 3 Issue: 7 Year: 2003 Page: 783-796
Author(s): Junko Irie-Sasaki, Takehiko Sasaki, Josef M. Penninger

Survivin: Role in Normal Cells and in Pathological Conditions

Journal: Current Cancer Drug Targets
Volume: 3 Issue: 2 Year: 2003 Page: 131-152
Author(s): L. ODriscoll, R. Linehan, M. Clynes

A Dual Role of Cyclin E in Cell Proliferation and Apotosis May Provide a Target for Cancer Therapy

Journal: Current Cancer Drug Targets
Volume: 4 Issue: 1 Year: 2004 Page: 65-75
Author(s): S. Mazumder, E. L. DuPree, A. Almasan

Cryptosporidium and Cryptosporidiosis

Ebook: Frontiers in Parasitology
Volume: 2 Year: 2017
Author(s): Simone M. Cacciò,Fabio Tosini
Doi: 10.2174/9781681084336117020005

Role of DAP12 in Innate and Adaptive Immune Responses

Journal: Current Pharmaceutical Design
Volume: 9 Issue: 1 Year: 2003 Page: 7-10
Author(s): Naoko Aoki, Shoji Kimura, Zhou Xing

Mode of Action of Plant Defensins Suggests Therapeutic Potential

Journal: Current Drug Targets - Infectious Disorders
Volume: 3 Issue: 1 Year: 2003 Page: 1-8
Author(s): Bart P.H.J. Thomma, Bruno P.A. Cammue, Karin Thevissen

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