Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.W198fs
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HMBS

NM_000190.4:p.W198fs

Associated Papers

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

Neuralgic amyotrophy presentation of acute intermittent porphyria: A case report.

Theuriet J et al.

Journal of the Peripheral Nervous System : Jpns, 2024

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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."