Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.W301*
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BTD

NM_001370658.1:p.W301*

Associated Papers

Biallelic loss-of-function variations in BTD cause profound biotinidase deficiency in an Indian patient.

Kannan B et al.

Molecular Biology Reports, 2024

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

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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."