Varaico: Literature-Extracted Genetic Variants

Gene:COL11A2
Variant:p.R591_G592Splc
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COL11A2

NM_080680.3:p.R591_G592Splc

Associated Papers

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

Pauta M et al.

Journal of Clinical Medicine, 2021

Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases.

Liu Y et al.

Diagnostic Pathology, 2019

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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."