Varaico: Literature-Extracted Genetic Variants

Gene:GLDN
Variant:p.R414*
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GLDN

NM_181789.4:p.R414*

Associated Papers

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.

Potrony M et al.

Journal of Clinical Medicine, 2022

Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.

Pauta M et al.

Journal of Clinical Medicine, 2021

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.

Maluenda J et al.

American Journal of Human Genetics, 2016

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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."