Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.I166_R167Splc
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HMBS

NM_000190.4:p.I166_R167Splc

Associated Papers

Prolonged survival in a patient with a novel pyrroline-5-carboxylase reductase 2 genetic variant.

Spagnoli C et al.

European Journal of Neurology, 2019

Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.

Floderus Y et al.

Clinical Genetics, 2002

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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."