Varaico: Literature-Extracted Genetic Variants

Gene:FTL
Variant:p.T150_N151insFs
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FTL

NM_000146.4:p.T150_N151insFs

Associated Papers

Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.

Shieh JT et al.

Hgg Advances, 2023

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy.

Shieh JT et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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