Varaico: Literature-Extracted Genetic Variants

Gene:COL11A2
Variant:p.R130W
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COL11A2

NM_080680.3:p.R130W

Associated Papers

COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.

Rebello D et al.

Human Molecular Genetics, 2023

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Tiwari A et al.

Scientific Reports, 2016

27353947 (PubMed )
Supplement: srep28755-s1.pdf
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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."