Varaico: Literature-Extracted Genetic Variants

Gene:MARS1
Variant:p.I285T
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MARS1

NM_004990.4:p.I285T

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG70

Whole-exome sequencing to identify undiagnosed primary immunodeficiency disorders in children with community-acquired sepsis, admitted in the pediatric intensive care unit.

Rayzan E et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023

Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees!

Castaldo A et al.

Erj Open Research, 2023

Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis.

Alzaid M et al.

Saudi Medical Journal, 2019

Congenital alveolar proteinosis.

Kattan AK et al.

Saudi Medical Journal, 2004

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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."