Varaico: Literature-Extracted Genetic Variants

Gene:HLCS
Variant:p.L173insFs
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HLCS

NM_001352514.2:p.L173insFs

Associated Papers

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

Stadler SC et al.

Human Mutation, 2006

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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."