Varaico: Literature-Extracted Genetic Variants

Gene:STAB1
Variant:p.C120S
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STAB1

NM_015136.3:p.C120S

Associated Papers

A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1.

Monfrini E et al.

American Journal of Human Genetics, 2023

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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."