Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.N144S
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SLC40A1

NM_014585.6:p.N144S

Associated Papers

The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease).

Uguen K et al.

Human Mutation, 2023

40225168 (PubMed )
Supplement: 5162256.f1.docx

Phenotypic expression of ferroportin disease in a family with the N144H mutation.

Rosmorduc O et al.

Gastroenterologie Clinique Et Biologique, 2008

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