Varaico: Literature-Extracted Genetic Variants

Gene:PORCN
Variant:p.T285del1
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PORCN

NM_203475.3:p.T285del1

Associated Papers

Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature.

Frisk S et al.

Clinical Case Reports, 2018

Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome.

Peters T et al.

Pediatric Dermatology, 0

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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."