Varaico: Literature-Extracted Genetic Variants

Gene:MLYCD
Variant:p.G333D
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MLYCD

NM_012213.3:p.G333D

Associated Papers

Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.

Puente-Ruiz N et al.

Molecular Genetics and Metabolism Reports, 2023

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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."