Varaico: Literature-Extracted Genetic Variants

Gene:ALAS2
Variant:p.T403_L406del0
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ALAS2

NM_000032.5:p.T403_L406del0

Associated Papers

Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations.

Moghe A et al.

Molecular Genetics and Metabolism Reports, 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."