Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.D473ins0
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COMP

NM_000095.3:p.D473ins0

Associated Papers

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.

Xue H et al.

Scientific Reports, 2024

Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing.

Xue H et al.

Scientific Reports, 2024

Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.

Briggs MD et al.

European Journal of Human Genetics : Ejhg, 2014

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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."