Varaico: Literature-Extracted Genetic Variants

Gene:ALAS1
Variant:p.L26L
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ALAS1

NM_000688.6:p.L26L

Associated Papers

Givosiran in acute intermittent porphyria: A personalized medicine approach.

Poli A et al.

Molecular Genetics and Metabolism, 2022

Penetrance and predictive value of genetic screening in acute porphyria.

Baumann K et al.

Molecular Genetics and Metabolism, 2020

A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.

Barman-Aksözen J et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2019

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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."