Varaico: Literature-Extracted Genetic Variants

Gene:PLXND1
Variant:p.R1299C
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PLXND1

NM_015103.3:p.R1299C

Associated Papers

Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.

Guimier A et al.

Human Molecular Genetics, 2023

Association of PLXND1 with a novel subtype of anomalous pulmonary venous return.

Zhou WZ et al.

Human Molecular Genetics, 2022

Application of next-generation sequencing for the diagnosis of fetuses with congenital heart defects.

Qiao F et al.

Current Opinion in Obstetrics & Gynecology, 2019

Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene.

Ta-Shma A et al.

American Journal of Medical Genetics. Part A, 2013

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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."