Varaico: Literature-Extracted Genetic Variants

Gene:HLCS
Variant:p.E457K
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HLCS

NM_001352514.2:p.E457K

Associated Papers

[Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency].

Wang T et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2009

Mutations in BTD causing biotinidase deficiency.

Hymes J et al.

Human Mutation, 2001

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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."