Varaico: Literature-Extracted Genetic Variants

Gene:PORCN
Variant:p.T56insFs
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PORCN

NM_203475.3:p.T56insFs

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

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

Harmsen MB et al.

European Journal of Human Genetics : Ejhg, 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."