Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS6
Variant:p.M736T
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TMPRSS6

NM_001374504.1:p.M736T

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

Associated Effect of SLC40A1 and TMPRSS6 Polymorphisms on Iron Overload.

Duca L et al.

Metabolites, 2022

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

Hoving V et al.

Genes, 2022

35893046 (PubMed )
Supplement: genes-13-01309-s001.zip › genes-1809945-supplementary.pdf

Early-onset stroke and iron-deficiency anaemia in young siblings.

Price-Kuehne F et al.

Rheumatology (oxford, England), 2021

Mutations and polymorphisms associated with iron overload in a series of 91 non-HFE haemochromatosis patients.

Borgel A et al.

Clinics and Research in Hepatology and Gastroenterology, 2020

A child with severe iron-deficiency anemia and a complex TMPRSS6 genotype.

Capra AP et al.

Hematology (amsterdam, Netherlands), 2017

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

Donker AE et al.

American Journal of Hematology, 2016

27643674 (PubMed )
Supplement: AJH-91-E482-s001.docx

Inter-ethnic differences in genetic variants within the transmembrane protease, serine 6 (TMPRSS6) gene associated with iron status indicators: a systematic review with meta-analyses.

Gichohi-Wainaina WN et al.

Genes & Nutrition, 2015

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s007.pdf

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

Wu HM et al.

Blood Cells, Molecules & Diseases, 2011

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.

Zhang G et al.

Human Mutation, 2010

21064102 (PubMed )
Supplement: supplement_1.pdf

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.

Beutler E et al.

Blood Cells, Molecules & Diseases, 2010

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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."