Varaico: Literature-Extracted Genetic Variants

Gene:PORCN
Variant:p.G125Splc
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PORCN

NM_203475.3:p.G125Splc

Associated Papers

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

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

Novel PORCN mutations in focal dermal hypoplasia.

Froyen G et al.

Clinical Genetics, 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."