Varaico: Literature-Extracted Genetic Variants

Gene:PORCN
Variant:p.W170*
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PORCN

NM_203475.3:p.W170*

Associated Papers

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

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.

Maas SM et al.

Journal of Medical Genetics, 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."