Varaico: Literature-Extracted Genetic Variants

Gene:PORCN
Variant:p.S136F
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PORCN

NM_203475.3:p.S136F

Associated Papers

Identification of key residues and regions important for porcupine-mediated Wnt acylation.

Rios-Esteves J et al.

The Journal of Biological Chemistry, 2014

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

Proffitt KD et al.

The Journal of Biological Chemistry, 2012

Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome).

Liu W et al.

Plos One, 2012

Mutation update for the PORCN gene.

Lombardi MP et al.

Human Mutation, 2011

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

Novel PORCN mutations in focal dermal hypoplasia.

Froyen G et al.

Clinical Genetics, 2009

PORCN mutations in focal dermal hypoplasia: coping with lethality.

Bornholdt D et al.

Human Mutation, 2009

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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."