Varaico: Literature-Extracted Genetic Variants

Gene:FITM2
Variant:p.R180*
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FITM2

NM_001080472.4:p.R180*

Associated Papers

Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.

Trilla P et al.

Cellular and Molecular Neurobiology, 2026

Partial loss of FITM2 function causes hereditary spastic paraplegia.

Salazar-Villacorta A et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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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."