Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.W210C
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POMGNT1

NM_017739.4:p.W210C

Associated Papers

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.

Corsten-Janssen N et al.

Prenatal Diagnosis, 2020

Molecular heterogeneity in fetal forms of type II lissencephaly.

Bouchet C et al.

Human Mutation, 2007

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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."