Varaico: Literature-Extracted Genetic Variants

Gene:CTBS
Variant:p.D112Y
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CTBS

NM_004388.3:p.D112Y

Associated Papers

Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations.

Bedilu R et al.

Molecular Genetics and Metabolism, 2002

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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."