Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS6
Variant:p.L166fs
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TMPRSS6

NM_001374504.1:p.L166fs

Associated Papers

The role of TMPRSS6 gene polymorphism in iron resistance iron deficiency anaemia (IRIDA): a systematic review.

Sharma A et al.

Annals of Hematology, 2024

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

Novel mutation in the TMPRSS6 gene with iron-refractory iron deficiency anemia.

Kodama K et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2014

Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy.

Khuong-Quang DA et al.

Pediatrics, 2013

Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).

De Falco L et al.

Human Mutation, 2010

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."