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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALAS2

Variant:p.P522_M528del7

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ALAS2

NM_000032.5:p.P522_M528del7

hg38:chrX:55013501 TCATCTGAGGGCTGTGGTGGGG>T

Associated Papers

Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine.

Ducamp S et al.

Blood, 2024

38900972 (PubMed )

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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."