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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NUTM1

Variant:p.C854Y

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NUTM1

NM_001284292.2:p.C854Y

hg38:chr15:34356569 G>A

Associated Papers

A novel p.C1130S mutation in a Finnish family with a complex phenotype of von Willebrand disease.

Calcoen B et al.

Haematologica, 2026

40874340 (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."