Varaico: Literature-Extracted Genetic Variants

Gene:SLC11A2
Variant:p.G75R
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SLC11A2

NM_000617.3:p.G75R

Associated Papers

Childhood Multiple Endocrine Neoplasia (MEN) Syndromes: Genetics, Clinical Heterogeneity and Modifying Genes.

Lanzaro F et al.

Journal of Clinical Medicine, 2024

New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation.

Romero-Cortadellas L et al.

International Journal of Molecular Sciences, 2022

Molecular Mechanism of Nramp-Family Transition Metal Transport.

Bozzi AT et al.

Journal of Molecular Biology, 2021

Identification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 gene.

De Falco L et al.

British Journal of Haematology, 2012

The homozygous mutation G75R in the human SLC11A2 gene leads to microcytic anaemia and iron overload.

Barrios M et al.

British Journal of Haematology, 2012

H(+)-coupled divalent metal-ion transporter-1: functional properties, physiological roles and therapeutics.

Shawki A et al.

Current Topics in Membranes, 2012

Not all DMT1 mutations lead to iron overload.

Blanco E et al.

Blood Cells, Molecules & Diseases, 0

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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."