Varaico: Literature-Extracted Genetic Variants

Gene:HLCS
Variant:p.L278L
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HLCS

NM_001352514.2:p.L278L

Associated Papers

Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.

Quinonez SC et al.

Jimd Reports, 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."