Varaico: Literature-Extracted Genetic Variants

Gene:FOXRED1
Variant:p.P281S
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FOXRED1

NM_017547.4:p.P281S

Associated Papers

Novel beta-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts.

Gucev ZS et al.

American Journal of Medical Genetics. Part A, 2008

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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."