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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AKR1B1

Variant:p.R269delFs

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AKR1B1

NM_001628.4:p.R269delFs

hg38:chr7:134447316 GC>G

Associated Papers

Two affected boys in a Rett syndrome family: clinical and molecular findings.

Villard L et al.

Neurology, 2000

11071498 (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."