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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HLCS

Variant:p.C759_I760insFs

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HLCS

NM_001352514.2:p.C759_I760insFs

hg38:chr21:36756715 G>GTGTT

Associated Papers

Holocarboxylase synthetase deficiency: report of one case.

Chou IC et al.

Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi, 0

17407983 (PubMed )

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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."