Varaico: Literature-Extracted Genetic Variants

Gene:PLXND1
Variant:p.N1895K
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PLXND1

NM_015103.3:p.N1895K

Associated Papers

Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.

Moresco G et al.

Genes, 2024

Physiopathologic Bases of Moebius Syndrome: Combining Genetic, Vascular, and Teratogenic Theories.

López Gutierrez D et al.

Pediatric Neurology, 2024

Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.

Glass GE et al.

Bmc Pediatrics, 2022

De novo mutations in PLXND1 and REV3L cause Möbius syndrome.

Tomas-Roca L et al.

Nature Communications, 2015

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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."