Varaico: Literature-Extracted Genetic Variants

Gene:MAS1L
Variant:p.I151V
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MAS1L

NM_052967.2:p.I151V

Associated Papers

Neurological involvement in 51 cystinosis patients: A single-center experience.

Burgac E et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 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."