Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS6
Variant:p.S614Splc
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TMPRSS6

NM_001374504.1:p.S614Splc

Associated Papers

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

The role of TMPRSS6/matriptase-2 in iron regulation and anemia.

Wang CY et al.

Frontiers in Pharmacology, 2014

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

Khuong-Quang DA et al.

Pediatrics, 2013

Rapid, accurate detection of TMPRSS6 gene causative mutations with a high-resolution melting assay.

Wu HM et al.

Blood Cells, Molecules & Diseases, 2011

Matriptase-2 (TMPRSS6): a proteolytic regulator of iron homeostasis.

Ramsay AJ et al.

Haematologica, 2009

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).

Finberg KE et al.

Nature Genetics, 2008

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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."