Varaico: Literature-Extracted Genetic Variants

Gene:HMOX1
Variant:p.Q212_L213Splc
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HMOX1

NM_002133.3:p.Q212_L213Splc

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

Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares.

Chau AS et al.

Pediatric Rheumatology Online Journal, 2020

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
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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."