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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCCA

Variant:p.E336delFs

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PCCA

NM_000282.4:p.E336delFs

hg38:chr13:100273286 GGA>G

Associated Papers

Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis.

Zheng Z et al.

Orphanet Journal of Rare Diseases, 2025

41029453 (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."