Varaico: Literature-Extracted Genetic Variants

Gene:P4HB
Variant:p.Q233*
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P4HB

NM_000918.4:p.Q233*

Associated Papers

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.

Muschol N et al.

Human Mutation, 2004

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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."