Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.C114insFs
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HMBS

NM_000190.4:p.C114insFs

Associated Papers

High Prevalence of Insulin Resistance in Asymptomatic Patients with Acute Intermittent Porphyria and Liver-Targeted Insulin as a Novel Therapeutic Approach.

Solares I et al.

Biomedicines, 2021

Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.

Whatley SD et al.

Human Genetics, 1999

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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."