Varaico: Literature-Extracted Genetic Variants

Gene:BMP6
Variant:p.R257H
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BMP6

NM_001718.6:p.R257H

Associated Papers

Hereditary haemochromatosis: Prevalence and characterization of the disease in a tertiary hospital in Aragon, Spain.

Abadía Molina C et al.

Medicina Clinica, 2024

Investigation of BMP6 mutations in Brazilian patients with iron overload.

Toreli ACM et al.

Hematology, Transfusion and Cell Therapy, 2024

Autophagy and Mitophagy-Related Pathways at the Crossroads of Genetic Pathways Involved in Familial Sarcoidosis and Host-Pathogen Interactions Induced by Coronaviruses.

Pacheco Y et al.

Cells, 2021

34440765 (PubMed )
Supplement: cells-10-01995-s001.zip › Table_S1_-_Pacheco_and_al_-_Manuscript_ID_CELLS_1218790.xlsx › Feuil1

Novel mutations in the bone morphogenetic protein 6 gene in patients with iron overload and non-homozygous genotype for the HFE p.Cys282Tyr mutation.

Alvarenga AM et al.

Blood Cells, Molecules & Diseases, 2020

Genetic modifiers of long-term survival in sickle cell anemia.

Wonkam A et al.

Clinical and Translational Medicine, 2020

32898326 (PubMed )
Supplement: CTM2-10-e152-s001.pdf

Evaluation of a bone morphogenetic protein 6 variant as a cause of iron loading.

McDonald CJ et al.

Human Genomics, 2018

Inter-individual gene variants associated with trabecular bone plasticity: A step forward in the personal genomics of degenerative bone disease.

Caso E et al.

Injury, 2017

Identification of new BMP6 pro-peptide mutations in patients with iron overload.

Piubelli C et al.

American Journal of Hematology, 2017

Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.

Daher R et al.

Gastroenterology, 2016

Iron overload is not the same everywhere: Particularities of iron-metabolism gene mutations in Brazil and a proposal for the investigation and management of iron overload in this population.

de Melo Campos P et al.

Hematology, Transfusion and Cell Therapy, 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."