Varaico: Literature-Extracted Genetic Variants

Gene:HMOX1
Variant:p.R44*
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HMOX1

NM_002133.3:p.R44*

Associated Papers

A rare case of heme oxygenase deficiency: A case report and literature review.

Alla SSM et al.

Clinical Case Reports, 2024

Clinical and molecular analysis of a novel variant in heme oxygenase-1 deficiency: Unraveling its role in inflammation, heme metabolism, and pulmonary phenotype.

Berendes LS et al.

Molecular Genetics and Metabolism Reports, 2024

Heme Oxygenase-1 Deficiency and Oxidative Stress: A Review of 9 Independent Human Cases and Animal Models.

Yachie A

International Journal of Molecular Sciences, 2021

Post-mortem Diagnosis of Heme Oxygenase-1 Deficiency by Whole Exome Sequencing in an Iranian Child.

Tahghighi F et al.

International Journal of Molecular and Cellular Medicine, 2019

Molecular elucidation of a new allelic variation at the Sg-5 gene associated with the absence of group A saponins in wild soybean.

Sundaramoorthy J et al.

Plos One, 2018

Haem oxygenase-1 deficiency: a mimicker of childhood vasculitis.

Gupta A et al.

Scandinavian Journal of Rheumatology, 2016

Clinical applications and implications of common and founder mutations in Indian subpopulations.

Ankala A et al.

Human Mutation, 2015

Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective.

Ankala A et al.

Muscle & Nerve, 2013

Human heme oxygenase-1 deficiency presenting with hemolysis, nephritis, and asplenia.

Radhakrishnan N et al.

Journal of Pediatric Hematology/oncology, 2011

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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."