Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.E198_A199del1
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BTD

NM_001370658.1:p.E198_A199del1

Associated Papers

Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs.

Silva GCV et al.

Genetics and Molecular Biology, 2022

Analysis of mutations causing biotinidase deficiency.

Pindolia K et al.

Human Mutation, 2010

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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."