Varaico: Literature-Extracted Genetic Variants

Gene:DEGS1
Variant:p.V191M
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DEGS1

NM_003676.4:p.V191M

Associated Papers

Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.

Amr K et al.

Journal of Molecular Neuroscience : Mn, 2021

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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."