Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.D121Y
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HMBS

NM_000190.4:p.D121Y

Associated Papers

Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.

Fu Y et al.

Frontiers in Pharmacology, 2019

31572191 (PubMed )
Supplement: Table_2.xlsx › HMBS.vcf.hg19_multianno

Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria.

Schneider-Yin X et al.

Clinical Genetics, 2006

May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.

Hrdinka M et al.

Physiological Research, 2006

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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."