Varaico: Literature-Extracted Genetic Variants

Gene:MGAM
Variant:p.Q1081Q
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MGAM

NM_001365693.1:p.Q1081Q

Associated Papers

Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies.

Ziemian M et al.

International Journal of Molecular Sciences, 2025

Neuromuscular Manifestations in Mitochondrial Diseases in Children.

Nascimento A et al.

Seminars in Pediatric Neurology, 2016

Diagnosis of muscle diseases presenting with early respiratory failure.

Pfeffer G et al.

Journal of Neurology, 2015

Neonatal muscular manifestations in mitochondrial disorders.

Tulinius M et al.

Seminars in Fetal & Neonatal Medicine, 2011

Neuromuscular implications in left ventricular hypertrabeculation/noncompaction.

Finsterer J et al.

International Journal of Cardiology, 2006

Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation.

Cupini LM et al.

Neurology, 2003

Ultrastructural aspects of vacuolar degeneration of cardiomyocytes in human endomyocardial biopsies.

Takemura G et al.

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0

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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."