Adding conflicting evidence to FRA12A_DIP2B#490
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hdashnow
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Jun 15, 2026
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Looks good! I suggest adding a few additional details, see comments.
| "Evidence detail": "Repeat expansion associated with promoter hypermethylation, loss of regulatory activity, and predicted allelic silencing. Expanded CGG repeat associated with promoter methylation and reduced DIP2B expression. Unmethylated expansion associated with overexpression.", | ||
| "Score": 0.5, | ||
| "Citation": "pmid:37248219; pmid:42205056", | ||
| "Evidence detail": "Repeat expansion associated with loss of regulatory activity, and predicted allelic silencing. Hypermethylation has been detected in expanded alleles, however another correlation analysis of long-read genomes shows no strong association between DIP2B CGG repeat length and promoter hypermethylation. Expanded CGG repeat associated with reduced DIP2B expression. Unmethylated expansion associated with overexpression.", |
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Cite which paper/pmid goes with which comment.
hdashnow
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Jun 16, 2026
hdashnow
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Jun 16, 2026
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