Varaico: Literature-Extracted Genetic Variants

Gene:HACL1
Variant:p.A171T
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HACL1

NM_001284413.2:p.A171T

Associated Papers

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

Borsatto T et al.

Plos One, 2017

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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."