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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NR5A1

Variant:p.L423delFs

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NR5A1

NM_004959.5:p.L423delFs

hg38:chr9:124482876 AG>A

Associated Papers

A novel C-terminal truncating NR5A1 mutation in dizygotic twins.

Hattori A et al.

Human Genome Variation, 2017

28326187 (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."