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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NUP160

Variant:p.R1102_V1116del15

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NUP160

NM_015231.3:p.R1102_V1116del15

hg38:chr11:47792785 CCACTGCACCAGACACTGGCTGCACAATCCACGCATATTCTGGACG>C

Associated Papers

Novel NUP160 mutations related to simultaneous congenital nephropathy and ovarian insufficiency.

Liu Y et al.

Clinical Kidney Journal, 2025

39834623 (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."