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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MECOM

Variant:p.S53delFs

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MECOM

NM_004991.4:p.S53delFs

hg38:chr3:169381403 ACT>A

Associated Papers

A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literature.

Li J et al.

Journal of Medical Case Reports, 2025

40170114 (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."