Varaico: Literature-Extracted Genetic Variants

Gene:PORCN
Variant:p.Y316Splc
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PORCN

NM_203475.3:p.Y316Splc

Associated Papers

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

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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."