Varaico: Literature-Extracted Genetic Variants

Gene:ALAS2
Variant:p.R517L
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ALAS2

NM_000032.5:p.R517L

Associated Papers

5-Aminolevulinic acid synthase: mechanism, mutations and medicine.

Shoolingin-Jordan PM et al.

Biochimica Et Biophysica Acta, 2003

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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."