Varaico: Literature-Extracted Genetic Variants

Gene:FTL
Variant:p.T30T
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FTL

NM_000146.4:p.T30T

Associated Papers

Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review.

Yang Y et al.

Hematology (amsterdam, Netherlands), 2021

Sensitive measurement of single-nucleotide polymorphism-induced changes of RNA conformation: application to disease studies.

Salari R et al.

Nucleic Acids Research, 2013

Mutation analysis of the ferritin L-chain gene in age-related cataract.

Assia N et al.

Molecular Vision, 2010

Scanning mutations of the 5'UTR regulatory sequence of L-ferritin by denaturing high-performance liquid chromatography: identification of new mutations.

Cremonesi L et al.

British Journal of Haematology, 2003

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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."