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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USP6NL

Variant:p.R275H

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USP6NL

NM_014688.5:p.R275H

hg38:chr10:11485170 C>T

Associated Papers

Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.

Sun H et al.

Ebiomedicine, 2025

40347836 (PubMed )

Supplement: mmc4.xlsx › Supplementary_Table_9

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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."