Varaico: Literature-Extracted Genetic Variants

Gene:LTBP4
Variant:p.T787A
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LTBP4

NM_001042545.2:p.T787A

Associated Papers

Global analysis of suppressor mutations that rescue human genetic defects.

Ünlü B et al.

Genome Medicine, 2023

37821946 (PubMed )
Supplement: 13073_2023_1232_MOESM3_ESM.xlsx › Data

Liquid Biopsy of Cerebrospinal Fluid Enables Selective Profiling of Glioma Molecular Subtypes at First Clinical Presentation.

Orzan F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36648487 (PubMed )
Supplement: ccr-22-2903_supplementary_data_2_suppds2.xlsx › Variants_identidied_in_Cohort1

Evaluating Genetic Modifiers of Duchenne Muscular Dystrophy Disease Progression Using Modeling and MRI.

Barnard AM et al.

Neurology, 2022

Genetic Modifiers and Phenotype of Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.

Pascual-Morena C et al.

Pharmaceuticals (basel, Switzerland), 2021

LTBP4 in Health and Disease.

Su CT et al.

Genes, 2021

Genetic modifiers and phenotypic variability in neuromuscular disorders.

Mroczek M et al.

Journal of Applied Genetics, 2020

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1

The "Usual Suspects": Genes for Inflammation, Fibrosis, Regeneration, and Muscle Strength Modify Duchenne Muscular Dystrophy.

Bello L et al.

Journal of Clinical Medicine, 2019

Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies.

Hightower RM et al.

Muscle & Nerve, 2018

Outside in: The matrix as a modifier of muscular dystrophy.

Quattrocelli M et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2017

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.

van den Bergen JC et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2015

Modifier genes and their effect on Duchenne muscular dystrophy.

Vo AH et al.

Current Opinion in Neurology, 2015

Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study.

Bello L et al.

Annals of Neurology, 2015

Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy.

Barp A et al.

Plos One, 2015

LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.

Flanigan KM et al.

Annals of Neurology, 2013

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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."