Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.L153F
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BTD

NM_001370658.1:p.L153F

Associated Papers

Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report.

Feng B et al.

Medicine, 2018

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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."