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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPP4R1

Variant:p.L51W

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PPP4R1

NM_001042388.3:p.L51W

hg38:chr18:9595054 A>C

Associated Papers

Genetic inactivation of FAAP100 causes Fanconi anemia due to disruption of the monoubiquitin ligase core complex.

Kuehl J et al.

The Journal of Clinical Investigation, 2025

40232843 (PubMed )

Supplement: jci-135-187323-s250.pdf

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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."