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Published in 2022 at "Genetics and Molecular Biology"
DOI: 10.1590/1678-4685-gmb-2020-0432
Abstract: Abstract Reduced biotinidase activity is associated with a spectrum of deficiency ranging from total deficiency to heterozygous levels, a finding that is not always explained by the pathogenic variants observed in the BTD gene. The…
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Keywords:
regulatory elements;
reduced biotinidase;
utr btd;
gene ... See more keywords