Varaico: Literature-Extracted Genetic Variants

Gene:DYNAP
Variant:p.M1T
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DYNAP

NM_173629.3:p.M1T

Associated Papers

Association of Glutathione S-transferase gene polymorphism with coronary artery disease (CAD) in North Indian population (Jammu and Kashmir): evidence from a case-control study and an updated meta-analysis.

Raina JK et al.

Inhalation Toxicology, 2025

Splicing Outcomes of 5' Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays.

Lin JH et al.

Frontiers in Genetics, 2021

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

Mendes MI et al.

Annals of Clinical and Translational Neurology, 2020

Predicting the Occurrence of Variants in RAG1 and RAG2.

Lawless D et al.

Journal of Clinical Immunology, 2019

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.

Parrella S et al.

Pediatric Blood & Cancer, 2014

Molecular evolutionary analysis of ABCB5: the ancestral gene is a full transporter with potentially deleterious single nucleotide polymorphisms.

Moitra K et al.

Plos One, 2011

The molecular etiologies and associated phenotypes of amelogenesis imperfecta.

Wright JT

American Journal of Medical Genetics. Part A, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."