Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS6
Variant:p.A739A
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TMPRSS6

NM_001374504.1:p.A739A

Associated Papers

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

Association of common TMPRSS6 and TF gene variants with hepcidin and iron status in healthy rural Gambians.

Jallow MW et al.

Scientific Reports, 2021

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

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
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