Varaico: Literature-Extracted Genetic Variants

Gene:MAT2A
Variant:p.E344A
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MAT2A

NM_005911.6:p.E344A

Associated Papers

Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).

Wilson GN et al.

Current Issues in Molecular Biology, 2024

38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S2Tab_EDS_variant_genes

Current understanding of the genetics of thoracic aortic disease.

Levy LE et al.

Vessel Plus, 2024

A Clinical Qualification Protocol Highlights Overlapping Genomic Influences and Neuro-Autonomic Mechanisms in Ehlers-Danlos and Long COVID-19 Syndromes.

Wilson GN

Current Issues in Molecular Biology, 2023

37504295 (PubMed )
Supplement: cimb-45-00379-s001.zip › cimb-2463302-supplementary.xlsx › S2Tab_EDS_variant_genes

Effects of Coronary Artery Disease-Associated Variants on Vascular Smooth Muscle Cells.

Solomon CU et al.

Circulation, 2022

35735005 (PubMed )
Supplement: cir-146-917-s019.xlsx › Literature

Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.

Parker LE et al.

Journal of the American Heart Association, 2021

Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.

Mariscalco G et al.

Journal of the American Heart Association, 2018

30371227 (PubMed )
Supplement: JAH3-7-e009302-s001.pdf

MAT2A mutations predispose individuals to thoracic aortic aneurysms.

Guo DC et al.

American Journal of Human Genetics, 2015

Insight into S-adenosylmethionine biosynthesis from the crystal structures of the human methionine adenosyltransferase catalytic and regulatory subunits.

Shafqat N et al.

The Biochemical Journal, 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."