Article

Biallelic<i>STAB1</i>pathogenic variants cause hereditary hyperferritinemia

2022-11-28

Abstract excerpt

Serum ferritin measurement is a routine laboratory test to indirectly evaluate body iron content. However, many additional factors may elevate serum ferritin levels disproportionally to iron stores. Hyperferritinemia is a frequent finding in several conditions, both genetic and acquired. Despite the long history of clinical use, fundamental aspects of the biology of serum ferritin are still unclear. We studied ele...

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Literature Corpus work: 825cf4c6-56dd-553f-b69f-0cc0bdf294aa
DOI: 10.1101/2022.11.24.22282670

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