Varaico: Literature-Extracted Genetic Variants

Gene:PORCN
Variant:p.L393_L398del0
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PORCN

NM_203475.3:p.L393_L398del0

Associated Papers

Almost Unilateral Focal Dermal Hypoplasia.

Lee S et al.

Annals of Dermatology, 2017

A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN gene.

Asano M et al.

Acta Dermato-venereologica, 2013

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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."