Varaico: Literature-Extracted Genetic Variants

Gene:POLR3K
Variant:p.C97Y
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POLR3K

NM_016310.5:p.C97Y

Associated Papers

Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome.

Drouin J et al.

American Journal of Hematology, 2005

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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."