Varaico: Literature-Extracted Genetic Variants

Gene:FTL
Variant:p.F167S
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FTL

NM_000146.4:p.F167S

Associated Papers

Structural Analysis of Variants of the Ferritin Light Chain Protein and Its Relationship with Neuroferritinopathy.

Gómez Hernández M et al.

Acs Chemical Neuroscience, 2024

Unraveling of the E-helices and disruption of 4-fold pores are associated with iron mishandling in a mutant ferritin causing neurodegeneration.

Baraibar MA et al.

The Journal of Biological Chemistry, 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."