Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS6
Variant:p.G636insFs
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TMPRSS6

NM_001374504.1:p.G636insFs

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

Two Novel TMPRSS6 Variants in a Compound Heterozygous Child With Iron Refractory Iron Deficiency Anemia.

Allison J et al.

Journal of Pediatric Hematology/oncology, 2020

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

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."