Varaico: Literature-Extracted Genetic Variants

Gene:BMP6
Variant:p.V394M
Back to variants list

BMP6

NM_001718.6:p.V394M

Associated Papers

Investigation of BMP6 mutations in Brazilian patients with iron overload.

Toreli ACM et al.

Hematology, Transfusion and Cell Therapy, 2024

Novel BMP6 gene mutation in patient with iron overload.

Tchernitchko D et al.

European Journal of Gastroenterology & Hepatology, 2021

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

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA2_Deleterious_Hits

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."