Varaico: Literature-Extracted Genetic Variants

Gene:BMP6
Variant:p.P95S
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BMP6

NM_001718.6:p.P95S

Associated Papers

Investigation of BMP6 mutations in Brazilian patients with iron overload.

Toreli ACM et al.

Hematology, Transfusion and Cell Therapy, 2024

Mutations and polymorphisms associated with iron overload in a series of 91 non-HFE haemochromatosis patients.

Borgel A et al.

Clinics and Research in Hepatology and Gastroenterology, 2020

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

McDonald CJ et al.

Human Genomics, 2018

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

Piubelli C et al.

American Journal of Hematology, 2017

Heterozygous BMP6 Variants Coupled With HFE Variants.

Bignell P et al.

Gastroenterology, 2016

Genetic Variants in the BMP6 Pro-Peptide May Not Cause Iron Loading and Should Be Interpreted With Caution.

McDonald CJ et al.

Gastroenterology, 2016

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

Daher R et al.

Gastroenterology, 2016

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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."