Varaico: Literature-Extracted Genetic Variants

Gene:FTL
Variant:p.H133P
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FTL

NM_000146.4:p.H133P

Associated Papers

The co-chaperone DNAJA2 buffers proteasomal degradation of cytosolic proteins with missense mutations.

Baker HA et al.

Journal of Cell Science, 2025

Analysis of nucleotide variations in genes of iron management in patients of Parkinson's disease and other movement disorders.

Castiglioni E et al.

Parkinson's Disease, 2010

A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.

Kannengiesser C et al.

Haematologica, 2009

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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."