Varaico: Literature-Extracted Genetic Variants

Gene:PMEL
Variant:p.R191C
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PMEL

NM_001384361.1:p.R191C

Associated Papers

Clinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy.

Milosevic MD et al.

Molecular Diagnosis & Therapy, 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."