Varaico: Literature-Extracted Genetic Variants

Gene:PTBP1
Variant:p.Q124H
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PTBP1

NM_002819.5:p.Q124H

Associated Papers

FGFR3 mutations in benign skin tumors.

Hafner C et al.

Cell Cycle (georgetown, Tex.), 2006

Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.

Hafner C et al.

The Journal of Clinical Investigation, 2006

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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."