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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FTH1

Variant:p.L170_F171delFs

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FTH1

NM_002032.3:p.L170_F171delFs

hg38:chr11:61964767 AAG>A

Associated Papers

Autosomal Dominant FTH1 Variant Causing Pontocerebellar Hypoplasia and Late-Onset Neuroferritinopathy: A Case Report.

Hebbink JA et al.

Neurology. Genetics, 2026

41551370 (PubMed )

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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."