Varaico: Literature-Extracted Genetic Variants

Gene:MARVELD3
Variant:p.P85T
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MARVELD3

NM_052858.6:p.P85T

Associated Papers

A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition.

Ventura I et al.

Orphanet Journal of Rare Diseases, 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."