Varaico: Literature-Extracted Genetic Variants

Gene:PORCN
Variant:p.G125R
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PORCN

NM_203475.3:p.G125R

Associated Papers

Prenatal diagnosis of PORCN-related developmental syndrome in a fetus: A novel phenotype.

Kilby MD et al.

Prenatal Diagnosis, 2023

Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study.

Mone F et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022

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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."