Varaico: Literature-Extracted Genetic Variants

Gene:HLCS
Variant:p.R91delFs
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HLCS

NM_000411.8:p.R91delFs

Associated Papers

Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion Baby.

Ting SL et al.

Jimd Reports, 2025

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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."