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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MPDZ

Variant:p.A212V

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MPDZ

NM_001378778.1:p.A212V

hg38:chr9:13222345 G>A

Associated Papers

Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.

Harrison BA et al.

The Journal of Clinical Investigation, 2025

40244696 (PubMed )

Supplement: jci-135-185126-s259.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."