Varaico: Literature-Extracted Genetic Variants

Gene:HMOX1
Variant:p.K204*
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HMOX1

NM_002133.3:p.K204*

Associated Papers

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 as an extremely rare cause of AA-type renal amyloidosis: Expanding the clinical features and review of the literature.

Dirim AB et al.

Clinical Rheumatology, 2023

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

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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."