Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.M1_L10delFs
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COL2A1

NM_001844.5:p.M1_L10delFs

Associated Papers

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.

Majava M et al.

American Journal of Medical Genetics. Part A, 2007

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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."