Varaico: Literature-Extracted Genetic Variants

Gene:STAB1
Variant:p.E117*
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STAB1

NM_015136.3:p.E117*

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

A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.

Bell S et al.

Communications Biology, 2021

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
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