Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.L440M
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BTD

NM_001370658.1:p.L440M

Associated Papers

Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.

Wolf B

Molecular Genetics and Metabolism, 2015

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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."