Varaico: Literature-Extracted Genetic Variants

Gene:BBOX1
Variant:p.R350H
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BBOX1

NM_003986.3:p.R350H

Associated Papers

Patients with anorexia nervosa have an increased burden of rare, damaging mutations in the BBOX1 gene.

Lutter M

Journal of Eating Disorders, 2025

The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.

Sanjuan-Ruiz I et al.

Molecular Neurodegeneration Advances, 2025

41127441 (PubMed )
Supplement: 44477_2025_4_MOESM2_ESM.xlsx › Sheet1
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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."