Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.D326N
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COMP

NM_000095.3:p.D326N

Associated Papers

Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.

Jacob P et al.

American Journal of Medical Genetics. Part A, 2022

A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia.

Chen J et al.

Genes & Diseases, 2019

Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia.

Yu WJ et al.

Molecular Medicine Reports, 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."