Varaico: Literature-Extracted Genetic Variants

Gene:PORCN
Variant:p.L347P
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PORCN

NM_203475.3:p.L347P

Associated Papers

Precise regulation of porcupine activity is required for physiological Wnt signaling.

Proffitt KD et al.

The Journal of Biological Chemistry, 2012

PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.

Fernandes PH et al.

Genetic Testing and Molecular Biomarkers, 2010

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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."