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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RUVBL2

Variant:p.R71W

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RUVBL2

NM_006666.3:p.R71W

hg38:chr19:49004364 C>T

Associated Papers

Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants.

Zhang J et al.

Frontiers in Endocrinology, 2024

38628584 (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."