Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.L137P
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HMBS

NM_000190.4:p.L137P

Associated Papers

Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review.

Ren Y et al.

Frontiers in Genetics, 2023

Circulating fluorocytes at the first attack of acute intermittent porphyria: a missing link in the pathogenesis.

Lam CW et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

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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."