Varaico: Literature-Extracted Genetic Variants

Gene:PORCN
Variant:p.S353_I357insFs
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PORCN

NM_203475.3:p.S353_I357insFs

Associated Papers

Predictable and precise template-free CRISPR editing of pathogenic variants.

Shen MW et al.

Nature, 2018

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

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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."