Varaico: Literature-Extracted Genetic Variants

Gene:HLCS
Variant:p.S515N
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HLCS

NM_000411.8:p.S515N

Associated Papers

Dramatic Clinical Improvement With Biotin Mega-Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency.

Kim SW et al.

Molecular Genetics & Genomic Medicine, 2024

Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis.

Demaret T et al.

Molecular Genetics and Metabolism Reports, 2024

Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency.

Ling S et al.

Orphanet Journal of Rare Diseases, 2023

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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."