Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS6
Variant:p.L166delFs
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TMPRSS6

NM_001374504.1:p.L166delFs

Associated Papers

TMPRSS6 Non-Coding Variants in the Expression of Iron Refractory Iron Deficiency Anemia in Monoallelic Subjects.

Hoving V et al.

Genes, 2026

Common Single Nucleotide Polymorphism of TMPRSS6, an Iron Regulation Gene, Associated with Variable Red Blood Cell Indices in Deletional α-Globin Genotypes.

Suksangpleng T et al.

Genes, 2022

IRIDA Phenotype in TMPRSS6 Monoallelic-Affected Patients: Toward a Better Understanding of the Pathophysiology.

Hoving V et al.

Genes, 2022

Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory.

Donker AE et al.

American Journal of Hematology, 2016

Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.

De Falco L et al.

Human Mutation, 2014

25156943 (PubMed )
Supplement: supplement_1.pdf

Role of matriptase-2 (TMPRSS6) in iron metabolism.

Lee P

Acta Haematologica, 2009

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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."