Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.G561S
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COL2A1

NM_001844.5:p.G561S

Associated Papers

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.

Markova T et al.

Genes, 2022

35052477 (PubMed )
Supplement: genes-13-00137-s001.zip › Tables_with_mutations_in_COL2A1_gene_2.pdf

A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.

Zhang H et al.

Journal of Human Genetics, 2015

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